ITGA9 c.2287G>A ;(p.V763M)

Variant ID: 3-37783273-G-A

NM_002207.2(ITGA9):c.2287G>A;(p.V763M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022

Variant appearance in text: RLC: V763M
PubMed Link: 36225299
Variant Present in the following documents:
  • fphys-13-975076.pdf
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: RLC: V763M
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page