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Updated: May 23, 2025

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评估包括MYOC变种与常见变种一起用于基于基因的玻璃眼风险分层的实际方法

Ngoc-Quynh Le1, Weixiong He1, Matthew H Law2

  • 1From the Statistical Genetics Lab (N.Q.L., W.H., M.H.L., P.G., S.M.), QIMR Berghofer Medical Research Institute, Herston, Brisbane, Queensland, Australia; Faculty of Medicine (N.Q.L., W.H., M.H.L.), University of Queensland, Herston, Queensland, Australia.

American journal of ophthalmology
|March 10, 2025
PubMed
概括

通过阵列数据和质量控制,可以实现MYOC p.Gln368Ter变体的精确基因型鉴定. 将这种变异整合到多基因风险得分 (PRS) 中,可以提高携带者对玻璃眼风险的分层.

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