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PABPC1 c.1009T>G ;(p.F337V)
Variant ID: 8-101721923-A-C
NM_002568.3(
PABPC1
):c.1009T>G;(p.F337V)
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:
Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition.
Nucleic Acids Research
Wydro, Mateusz M; Bobrowicz, Agnieszka A; Temperley, Richard J RJ; Lightowlers, Robert N RN; Chrzanowska-Lightowlers, Zofia M ZM
Publication Date: 2010-06
Variant appearance in text: PABPC1: F337V
PubMed Link:
20144953
Variant Present in the following documents:
Main text
View BVdb publication page