Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

Purpose. To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation...

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Autores principales: Doudou Chen, Tao Yang, Siquan Zhu
Formato: article
Lenguaje:EN
Publicado: Hindawi Limited 2021
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Acceso en línea:https://doaj.org/article/0633a3cd71be415796bcaf186ce92334
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