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PKD1 c.12631G>T ;(p.E4211*)
Variant ID: 16-2140009-C-A
NM_001009944.2(
PKD1
):c.12631G>T;(p.E4211*)
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:
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.
The Journal Of Clinical Investigation
Gainullin, Vladimir G VG; Hopp, Katharina K; Ward, Christopher J CJ; Hommerding, Cynthia J CJ; Harris, Peter C PC
Publication Date: 2015-02
Variant appearance in text: PKD1: 12631G>T; E4211X
PubMed Link:
25574838
Variant Present in the following documents:
Main text
View BVdb publication page