Lv3
260 积分 2023-08-22 加入
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants
7小时前
已完结
Cancer and disease profiles for PTEN pathogenic variants in Japanese population
1天前
已完结
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
1天前
已完结
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
1天前
已完结
Saturation genome editing-based clinical classification of BRCA2 variants
14天前
已完结
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
16天前
已完结
Multiplex assessment of protein variant abundance by massively parallel sequencing
16天前
已完结
An R223P mutation in EXT2 gene causes hereditary multiple exostoses
16天前
已完结
Mutation Screening of the EXT Genes in Patients with Hereditary Multiple Exostoses in Taiwan
16天前
已完结
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy
1个月前
已完结
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