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Article

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2021

Sun Wenmin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

PURPOSE: The pathogenic variants in TSPAN12 could lead to familial exudative vitreoretinopathy (FEVR), which has high clinical variability. This study aims to assess the pathogenicity of TSPAN12 variants and their phenotypic spectrum based on exome sequencing from 7092 probands with different eye conditions. METHODS: The variants in TSPAN12 were selected from exome sequencing data of samples from 7092 probands...

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PMID: 33907885
DOI: 10.1007/s00417-021-05196-y

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