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HR c.337C>G ;(p.P113A)
Variant ID: 8-21986347-G-C
NM_005144.4(
HR
):c.337C>G;(p.P113A)
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:
The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy.
Plos One
Guo, Xiying X; Fan, Chaomei C; Tian, Lei L; Liu, Yanling Y; Wang, Hongyue H; Zhao, Shihua S; Duan, Fujian F; Zhang, Xiuling X; Zhao, Xing X; Wang, Fengqi F; Zhu, Hongguang H; Lin, Aiqing A; Wu, Xia X; Li, Yishi Y
Publication Date: 2017
Variant appearance in text: HR: P113A
PubMed Link:
28323875
Variant Present in the following documents:
Main text
pone.0174118.pdf
View BVdb publication page
Mechanistic and Evolutionary Insights from the Reciprocal Promiscuity of Two Pyridoxal Phosphate-dependent Enzymes.
The Journal Of Biological Chemistry
Soo, Valerie W C VW; Yosaatmadja, Yuliana Y; Squire, Christopher J CJ; Patrick, Wayne M WM
Publication Date: 2016-09-16
Variant appearance in text: HR: P113A
PubMed Link:
27474741
Variant Present in the following documents:
Main text
View BVdb publication page