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- [21] DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 childrenNEUROMUSCULAR DISORDERS, 2013, 23 (11) : 883 - 891Klein, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Paediat Neurol, Zurich, Switzerland Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandPitt, Matthew C.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Clin Neurophysiol, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandMcHugh, John C.论文数: 0 引用数: 0 h-index: 0机构: St Vincents Univ Hosp, Dept Clin Neurophysiol, Dublin 4, Ireland Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandNiks, Erik H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandSewry, Caroline A.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England RJAH Orthopaed Hosp, Ctr Inherited Neuromuscular Dis, Oswestry, Shrops, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandPhadke, Rahul论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandFeng, Lucy论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandManzur, Adnan Y.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandTirupathi, Sandya论文数: 0 引用数: 0 h-index: 0机构: Belfast City Hosp, Dept Paediat Neurol, Belfast, Antrim, North Ireland Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandDeVile, Catherine论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Neurol, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandJayawant, Sandeep论文数: 0 引用数: 0 h-index: 0机构: Oxford Childrens Hosp, Dept Paediat Neurol, Oxford, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandFinlayson, Sarah论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Neurol, Oxford OX3 9DU, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandPalace, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Neurol, Oxford OX3 9DU, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandBeeson, David论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DU, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, SwitzerlandRobb, Stephanie A.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Univ Childrens Hosp, Dept Paediat Neurol, Zurich, Switzerland
- [22] Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weaknessJOURNAL OF CLINICAL NEUROSCIENCE, 2020, 75 : 195 - 198Lorenzoni, Paulo Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilKamoi Kay, Claudia Suemi论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilArndt, Raquel Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilCoblinski Hrysay, Nyvia Milicio论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilDucci, Renata Dal-Pra论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilJesus Fustes, Otto H.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilTopf, Ana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilLochmuller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Eastern Ontario Res Inst, Div Neurol, Childrens Hosp,Dept Med,Ottawa Hosp, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilWerneck, Lineu Cesar论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, BrazilScola, Rosana Herminia论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, Curitiba, Parana, Brazil
- [23] Functional characterisation of a mouse model of DOK7 congenital myasthenic syndrome and response to treatment with salbutamolNEUROMUSCULAR DISORDERS, 2018, 28 : S26 - S27Webster, R. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, EnglandVanhaesebrouck, A. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, EnglandMaxwell, S. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, EnglandCossins, J. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, EnglandBeeson, D. M. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England
- [24] Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature reviewCLINICAL NEUROLOGY AND NEUROSURGERY, 2021, 203Fernandes, Marco论文数: 0 引用数: 0 h-index: 0机构: Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, Portugal Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, PortugalCaetano, Andre论文数: 0 引用数: 0 h-index: 0机构: Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, Portugal Univ Nova Lisboa, Fac Ciencias Med, Nova Med Sch, CEDOC Chron Dis Res Ctr, Lisbon, Portugal Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, PortugalPinto, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, Portugal Ctr Hosp Porto, Dept Neumsci, Neuropathol Unit, P-4099001 Porto, Portugal Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, PortugalMedeiros, Elmira论文数: 0 引用数: 0 h-index: 0机构: Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, Portugal Univ Nova Lisboa, Fac Ciencias Med, Nova Med Sch, CEDOC Chron Dis Res Ctr, Lisbon, Portugal Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, PortugalSantos, Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, Portugal Univ Nova Lisboa, Fac Ciencias Med, Nova Med Sch, CEDOC Chron Dis Res Ctr, Lisbon, Portugal Hosp Egas Moniz, Ctr Hosp Lisboa Ocident, Dept Neurol, Rua Junqueira 126, P-1349019 Lisbon, Portugal
- [25] Unravelling a familial case of DOK7 congenital myasthenic syndrome by analyzing RNA in patients' cultured cellsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 518 - 519Arts, Florence论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumKaradurmus, Deniz论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumMonestier, Olivier论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumDe Moor, Delphine论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumLheureux, Mathilde论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumLizon, Marie-Line论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumGandea, Mona论文数: 0 引用数: 0 h-index: 0机构: Hop Civil Marie Curie, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumBenoit, Valerie论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, BelgiumMaystadt, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Charleroi, Belgium Inst Pathol & Genet, Charleroi, Belgium
- [26] Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7JOURNAL OF NEUROLOGY, 2010, 257 (05) : 754 - 766Ben Ammar, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Tunis El Manar, Inst Natl Neurol, Tunis, Tunisia Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FrancePetit, F.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceAlexandri, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Grp Hosp Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceGaudon, K.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, UF Cardiogenet & Myogenet, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceBauche, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceRouche, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceGras, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceFournier, E.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Serv Neurophysiol, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceKoenig, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Victor Segalen Bordeaux 2, Bordeaux, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceLacour, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Ctr Reference Malad Neuromusculaires, F-59037 Lille, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FrancePetiot, P.论文数: 0 引用数: 0 h-index: 0机构: Hop Croix Rousse, Serv Neurol, F-69317 Lyon, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceZagnoli, F.论文数: 0 引用数: 0 h-index: 0机构: Hop Armees Clermont Tonnerre, Serv Neurol, Brest, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceViollet, L.论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, Serv Pediat, Garches, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FrancePellegrini, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, Serv Reanimat Med, Garches, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceOrlikowski, D.论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, Serv Reanimat Med, Garches, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceLazaro, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp, Serv Genet, Rennes, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceFerrer, X.论文数: 0 引用数: 0 h-index: 0机构: Hop Haut Leveque, Pessac, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceStoltenburg, G.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Unite Morphol Neuromusculaire, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FrancePaturneau-Jouas, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceHentati, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Univ Tunis El Manar, Inst Natl Neurol, Tunis, Tunisia Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceFardeau, M.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Unite Morphol Neuromusculaire, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceSternberg, D.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, UF Cardiogenet & Myogenet, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceHantai, D.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceRichard, P.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, UF Cardiogenet & Myogenet, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France Grp Hosp Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75634 Paris, France Univ Paris 06, INSERM, UMRS 975, Grp Hosp Pitie Salpetriere,Inst Myol,CRICM, F-75013 Paris, France
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