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PRRT2 c.253_255delinsGAC ;(p.T85D)
Variant ID: 16-29824628-ACA-GAC
NM_145239.2(
PRRT2
):c.253_255delinsGAC;(p.T85D)
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:
Identification and functional characterization of phosphorylation sites on GTP cyclohydrolase I.
Arteriosclerosis, Thrombosis, And Vascular Biology
Du, Jianhai J; Wei, Na N; Xu, Hao H; Ge, Ying Y; Vásquez-Vivar, Jeannette J; Guan, Tongju T; Oldham, Keith T KT; Pritchard, Kirkwood A KA; Shi, Yang Y
Publication Date: 2009-12
Variant appearance in text: PKC: T85D
PubMed Link:
19762783
Variant Present in the following documents:
Main text
View BVdb publication page