Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations

Lu Tian,Chunjie Chen,Yuning Song,Xiaohui Zhang,Ke Xu,Yue Xie,Zi-Bing Jin,Yang Li

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2022）

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摘要

DIVs and CNVs explained approximately two-thirds of the unresolved Chinese cases with ABCA4-related retinopathy. Combining results from phenotypic-directed screening, targeting the whole ABCA4 sequencing and in silico tools can help to identify the missing heritability.

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关键词

ABCA4, deep intronic variant, copy number variation

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