Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity

被引：0
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作者：
Cristina Santos Ferreira
Ronaldo da Silva Francisco Junior
Alexandra Lehmkuhl Gerber
Ana Paula de Campos Guimarães
Flávia Anisio Amendola
Fernanda Pinto-Mariz
Monica Soares de Souza
Patrícia Carvalho Batista Miranda
Zilton Farias Meira de Vasconcelos
Ekaterini Simões Goudouris
Ana Tereza Ribeiro Vasconcelos
机构：
[1] National Laboratory of Scientific Computation LNCC/MCTIC,Bioinformatics Laboratory
[2] Allergy and Immunology Service of Institute of Women,LABINFO
[3] Children and Adolescents’ Health Fernandes Figueira (IFF) - Oswaldo Cruz Foundation (FIOCRUZ),Allergy and Immunology Service of the Martagão Gesteira Institute for Childcare and Pediatrics (IPPMG)
[4] Federal University of Rio de Janeiro (UFRJ),undefined
[5] Federal Hospital for State Employees (HFSE)–Health Ministry,undefined
[6] Lagoon Federal Hospital (HFL)–Health Ministry,undefined
[7] Laboratory of High Complexity of the Institute of Women,undefined
[8] Children and Adolescents’ Health Fernandes Figueira (IFF) - Oswaldo Cruz Foundation (FIOCRUZ),undefined
来源：
BMC Genomic Data | / 24卷
关键词：
Whole exome sequencing; Single nucleotide variants; Monogenic disorder; Inborn errors of immunity;
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