List of confirmed likely pathogenic mutations in the 20 patient study.
收藏Figshare2015-12-02 更新2026-04-29 收录
下载链接：
https://figshare.com/articles/dataset/_List_of_confirmed_likely_pathogenic_mutations_in_the_20_patient_study_/1143080
下载链接
链接失效反馈官方服务：
资源简介：
The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation according to the human genome assembly hg19, gene, coding effect, cDNA and protein nomenclature, BLOSUM62, AGVGD class, SIFT prediction, MAPP prediction, zygosity and whether the mutation has been previously implicated into causing disease are shown. Text in bold and italicised highlights high pathogenicity prediction for missense variants. For BLOSUM62, high pathogenicity =
创建时间：
2015-12-02
