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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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