Whole exome sequencing of a 7-year-old male with GPR143 mutation
收藏NIAID Data Ecosystem2026-03-12 收录
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA707130
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资源简介：
pathogenic variants of GPR143 often leads to ocular albinism I (OA1). In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an atypical manifestation of OA1.
创建时间：
2021-03-06
