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POLE c.4480C>T ;(p.Q1494*)
Variant ID: 12-133219881-G-A
NM_006231.2(
POLE
):c.4480C>T;(p.Q1494*)
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:
Role of POLE and POLD1 in familial cancer.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mur, Pilar P; García-Mulero, Sandra S; Del Valle, Jesús J; Magraner-Pardo, Lorena L; Vidal, August A; Pineda, Marta M; Cinnirella, Giacomo G; Martín-Ramos, Edgar E; Pons, Tirso T; López-Doriga, Adriana A; Belhadj, Sami S; Feliubadaló, Lidia L; Munoz-Torres, Pau M PM; Navarro, Matilde M; Grau, Elia E; Darder, Esther E; Llort, Gemma G; Sanz, Judit J; Ramón Y Cajal, Teresa T; Balmana, Judith J; Brunet, Joan J; Moreno, Victor V; Piulats, Josep M JM; Matías-Guiu, Xavier X; Sanz-Pamplona, Rebeca R; Aligué, Rosa R; Capellá, Gabriel G; Lázaro, Conxi C; Valle, Laura L
Publication Date: 2020-12
Variant appearance in text: POLE: 4480C>T; Gln1494*
PubMed Link:
32792570
Variant Present in the following documents:
Main text
41436_2020_922_MOESM1_ESM.pdf
41436_2020_Article_922.pdf
View BVdb publication page