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POLE c.2174-44G>A
Variant ID: 12-133244278-C-T
NM_006231.2(
POLE
):c.2174-44G>A
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:
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18
Variant appearance in text: POLE: 2174-44G>A; rs1027661921
PubMed Link:
35304488
Variant Present in the following documents:
41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page