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F2 c.539_540del ;(p.E180Vfs*36)
Variant ID: 11-46745048-GAA-G
NM_000506.3(
F2
):c.539_540del;(p.E180Vfs*36)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutations in Hnrnpa1 cause congenital heart defects.
Jci Insight
Yu, Zhe Z; Tang, Paul Lf PL; Wang, Jing J; Bao, Suying S; Shieh, Joseph T JT; Leung, Alan Wl AW; Zhang, Zhao Z; Gao, Fei F; Wong, Sandra Yy SY; Hui, Andy Lc AL; Gao, Yuan Y; Dung, Nelson N; Zhang, Zhi-Gang ZG; Fan, Yanhui Y; Zhou, Xueya X; Zhang, Yalun Y; Wong, Dana Sm DS; Sham, Pak C PC; Azhar, Abid A; Kwok, Pui-Yan PY; Tam, Patrick Pl PP; Lian, Qizhou Q; Cheah, Kathryn Se KS; Wang, Binbin B; Song, You-Qiang YQ
Publication Date: 2018-01-25
Variant appearance in text: F2: 539_540del
PubMed Link:
29367466
Variant Present in the following documents:
Main text
View BVdb publication page