Missense and LoF variants in NEU1 CDS.
收藏Figshare2015-12-02 更新2026-04-29 收录
下载链接：
https://figshare.com/articles/dataset/_Missense_and_LoF_variants_in_NEU1_CDS_/1150959
下载链接
链接失效反馈官方服务：
资源简介：
* = variants selected for in vitro functional studies;† = variants already annotated as pathological mutations in HGMD [13].The two missense variants identified as putative pathogenic mutations and the frameshift variant are shown in bold. Impact prediction summarizes results from the PolyPhen2, SIFT and VEP tools: D, damaging; B, benign or tolerated. GERP (Genomic Evolutionary Rate Profiling) score measures the level of conservation for the indicated nucleotide (see Methods). MAF, minor allele frequency; nd, not reported in the corresponding database. NEU1 cDNA sequence refers to NM_000434.3, protein sequence refers to NP_000425.1.
创建时间：
2015-12-02
