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COL17A1 c.2755G>C ;(p.D919H)
Variant ID: 10-105800115-C-G
NM_000494.3(
COL17A1
):c.2755G>C;(p.D919H)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.
Cell Death & Disease
Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J
Publication Date: 2019-02-04
Variant appearance in text: rs117564807
PubMed Link:
30718471
Variant Present in the following documents:
41419_2019_1313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Identification of nine genes as novel susceptibility loci for early-onset ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage.
Biomedical Reports
Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2018-07
Variant appearance in text: rs117564807
PubMed Link:
29930801
Variant Present in the following documents:
Main text
br-09-01-0008.pdf
View BVdb publication page