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- [21] Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3HUMAN MUTATION, 2022, 43 (12) : 2116 - 2129论文数: 引用数: h-index:机构:Jacob, Prince论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyUpadhyai, Priyanka论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyTaskiran, Zihni Ekim论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyGuleria, Vishal S.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyKaraosmanoglu, Beren论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyImren, Gozde论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyGocmen, Rahsan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Radiol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyBhavani, Gandham S.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyKausthubham, Neethukrishna论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyShah, Hitesh论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Pediat Orthopaed, Manipal, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyUtine, Gulen Eda论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyBoduroglu, Koray论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, TurkeyGirisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Hacettepe Univ, Fac Med, Dept Pediat Genet, Ankara, Turkey