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PRRT2 c.688_690delinsTGT ;(p.R230C)
Variant ID: 16-29825063-AGG-TGT
NM_145239.2(
PRRT2
):c.688_690delinsTGT;(p.R230C)
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:
An approach to the etiology of metabolic syndrome.
Colombia Medica (Cali, Colombia)
Muñoz Contreras, Angélica M AM; Bedoya Berrío, Gabriel G; Velásquez R, Claudia M CM
Publication Date: 2013-01
Variant appearance in text: PKC: R230C
PubMed Link:
24892324
Variant Present in the following documents:
Main text
View BVdb publication page