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580 积分 2021-09-06 加入
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
3天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
3天前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
10天前
已完结
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
1个月前
已完结
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
1个月前
已完结
Generative artificial intelligence in genetics: A comprehensive review
2个月前
已完结
Comparison of Literature Mining Tools for Variant Classification: Through the Lens of Fifty RYR1 Variants
2个月前
已关闭
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
2个月前
已完结
An autopsy case report of adult‐onset Krabbe disease: Comparison with an infantile‐onset case
2个月前
已完结
[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B]
2个月前
已完结
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