生物
桑格测序
遗传学
无义突变
基因
突变
有丝分裂
外显子组测序
HEK 293细胞
分子生物学
错义突变
作者
Xiaozhen Chen,Ping Tong,Ying Jiang,Zhe Cheng,Liyu Zang,Zhikuan Yang,Weizhong Lan,Kun Xia,Zhengmao Hu,Qi Tian
标识
DOI:10.1136/jmg-2023-109434
摘要
High myopia (HM) refers to an eye refractive error exceeding -5.00 D, significantly elevating blindness risk. The underlying mechanism of HM remains elusive. Given the extensive genetic heterogeneity and vast genetic base opacity, it is imperative to identify more causative genes and explore their pathogenic roles in HM.
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