色素性视网膜炎
桑格测序
外显子组测序
遗传学
生物
斑马鱼
错义突变
复合杂合度
基因敲除
视网膜变性
外显子组
突变
基因
作者
Linghui Kong,Guoming Chu,Wei Ma,Jiajian Liang,Dan Liu,Qiushi Liu,Xiaowei Wei,Shanshan Jia,Hui Gu,Yiwen He,Wenting Luo,Songying Cao,Xiaomeng Zhou,He Rong,Zhengwei Yuan
标识
DOI:10.1136/jmg-2022-108888
摘要
Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%-45% of cases remain without a molecular diagnosis. von Willebrand factor A domain containing 8 (
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