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PRRT2 c.538G>C ;(p.E180Q)
Variant ID: 16-29824913-G-C
NM_145239.2(
PRRT2
):c.538G>C;(p.E180Q)
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:
Myosin binding protein C: implications for signal-transduction.
Journal Of Muscle Research And Cell Motility
Knöll, Ralph R
Publication Date: 2012-05
Variant appearance in text: PKC: Glu180Gln
PubMed Link:
22173300
Variant Present in the following documents:
Main text
10974_2011_Article_9281.pdf
View BVdb publication page