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导致神经元腊样脂褐质沉积症7型的MFSD8基因复合突变体、复合突变体蛋白和应用

Year of Publication 23.07.2024
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导致French-Canadian型Leigh综合征的LRPPRC基因复合突变体

Year of Publication 23.04.2024
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导致血小板无力症的ITGA2B基因复合突变体、复合突变体蛋白和应用

Year of Publication 20.02.2024
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Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis

by Li, Yun, Pan, Qing, Gu, Yang-shun
Published in Journal of Zhejiang University. B. Science (01.05.2017)

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