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COL4A5 c.85T>C ;(p.C29R)
Variant ID: X-107782979-T-C
NM_033380.2(
COL4A5
):c.85T>C;(p.C29R)
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:
Low dinosaur biodiversity in central China 2 million years prior to the end-Cretaceous mass extinction.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Han, Fei F; Wang, Qiang Q; Wang, Huapei H; Zhu, Xufeng X; Zhou, Xinying X; Wang, Zhixiang Z; Fang, Kaiyong K; Stidham, Thomas A TA; Wang, Wei W; Wang, Xiaolin X; Li, Xiaoqiang X; Qin, Huafeng H; Fan, Longgang L; Wen, Chen C; Luo, Jianhong J; Pan, Yongxin Y; Deng, Chenglong C
Publication Date: 2022-09-27
Variant appearance in text: ATS: C29r
PubMed Link:
36122246
Variant Present in the following documents:
pnas.2211234119.sapp.pdf
View BVdb publication page
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Iscience
Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH
Publication Date: 2022-03-18
Variant appearance in text: COL4A5: C29R
PubMed Link:
35243249
Variant Present in the following documents:
Main text
mmc1.pdf
main.pdf
View BVdb publication page