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PNPLA3 c.815A>T ;(p.E272V)
Variant ID: 22-44332988-A-T
NM_025225.2(
PNPLA3
):c.815A>T;(p.E272V)
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:
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Scientific Reports
Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2020-12-31
Variant appearance in text: PNPLA3: E272V
PubMed Link:
33384420
Variant Present in the following documents:
Main text
View BVdb publication page