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PRRT2 c.147G>C ;(p.Q49H)
Variant ID: 16-29824522-G-C
NM_145239.2(
PRRT2
):c.147G>C;(p.Q49H)
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:
Structural basis for the selective permeability of channels made of communicating junction proteins.
Biochimica Et Biophysica Acta
Ek-Vitorin, Jose F JF; Burt, Janis M JM
Publication Date: 2013-01
Variant appearance in text: PKC: Q49H
PubMed Link:
22342665
Variant Present in the following documents:
Main text
View BVdb publication page