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天真小甜瓜
Lv5
11
1030 积分
2023-12-05 加入
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Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping
2天前
已关闭
The loss of function GBA1 c.231C > G mutation associated with Parkinson disease
3天前
已完结
Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
6天前
已关闭
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy
6天前
已完结
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy
6天前
已完结
Genetic testing in children with surfactant dysfunction
9天前
已完结
The genetic spectrum of familial hypercholesterolemia in the central south region of China
15天前
已完结
The genetic spectrum of familial hypercholesterolemia in the central south region of China
15天前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
15天前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
15天前
已完结
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