Mutation identified.
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Mutation identified.
应用场景：
创建时间：
2022-10-31
相关数据集
Summary of the missense mutations identified.
+Mutation nomenclature according to NM_000249.3 (MLH1), NM_000251.2 (MSH2) and NM_000179.2 (MSH6). For the nomenclature of mutations nucleotide 1 is the A of the ATG-translation initiation codon. ++Cl
NIAID Data Ecosystem30
Spectrum of BRCA pathogenic mutations identified.
Abbreviation: SS, Splice-site mutation; NS, Nonsense mutation; FS, Frame-shift mutation; IFD, In-frame deletion mutation. Recurrent mutations are highlighted in bold.
NIAID Data Ecosystem20
Summary of CHRDL1 mutations identified.
In silico analysis of rare CHRDL1 variants identified is presented. Polyphen 2 appraises mutations quantitatively as benign, possibly damaging (POS) or probably damaging (PRD) based on the model's fal
Figshare2015-12-02 更新00
Summary of the missense mutations identified.
+Mutation nomenclature according to NM_000249.3 (MLH1), NM_000251.2 (MSH2) and NM_000179.2 (MSH6). For the nomenclature of mutations nucleotide 1 is the A of the ATG-translation initiation codon.++Cla
Figshare2015-12-02 更新00
Spectrum of BRCA pathogenic mutations identified.
Abbreviation: SS, Splice-site mutation; NS, Nonsense mutation; FS, Frame-shift mutation; IFD, In-frame deletion mutation. Recurrent mutations are highlighted in bold.
Figshare2015-12-02 更新00
