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PRRT2 c.520_521delinsGA ;(p.S174D)
Variant ID: 16-29824895-AG-GA
NM_145239.2(
PRRT2
):c.520_521delinsGA;(p.S174D)
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:
Powering through ribosome assembly.
Rna (New York, N.Y.)
Strunk, Bethany S BS; Karbstein, Katrin K
Publication Date: 2009-12
Variant appearance in text: PKC: S174D
PubMed Link:
19850913
Variant Present in the following documents:
Main text
View BVdb publication page