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.




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