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PRRT2 c.430C>A ;(p.P144T)
Variant ID: 16-29824805-C-A
NM_145239.2(
PRRT2
):c.430C>A;(p.P144T)
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:
Myofilament length dependent activation.
Journal Of Molecular And Cellular Cardiology
de Tombe, Pieter P PP; Mateja, Ryan D RD; Tachampa, Kittipong K; Ait Mou, Younss Y; Farman, Gerrie P GP; Irving, Thomas C TC
Publication Date: 2010-05
Variant appearance in text: PKC: Pro144Thr
PubMed Link:
20053351
Variant Present in the following documents:
Main text
View BVdb publication page