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探秘巴基斯坦人群遗传性视网膜疾病的独特遗传景观，解锁精准诊疗 ...
遗传性视网膜疾病（IRDs）是一类致盲性罕见病，遗传异质性高，南亚人群相关研究匮乏。研究人员对巴基斯坦 213 个 IRD 家庭进行全外显子测序。发现独特突变谱，诊断率达 80.3% 。该研究为当地遗传分析、咨询及基因治疗提供重要依据。 遗传性视网膜疾病 ...
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