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COL3A1 c.4011+1G>A
Variant ID: 2-189875092-G-A
NM_000090.3(
COL3A1
):c.4011+1G>A
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.
Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17
Variant appearance in text: COL3A1: 4011+1G>A
PubMed Link:
35584624
Variant Present in the following documents:
mmc2.xlsx, sheet 4
View BVdb publication page
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
European Journal Of Human Genetics : Ejhg
Frank, Michael M; Albuisson, Juliette J; Ranque, Brigitte B; Golmard, Lisa L; Mazzella, Jean-Michael JM; Bal-Theoleyre, Laurence L; Fauret, Anne-Laure AL; Mirault, Tristan T; Denarié, Nicolas N; Mousseaux, Elie E; Boutouyrie, Pierre P; Fiessinger, Jean-Noël JN; Emmerich, Joseph J; Messas, Emmanuel E; Jeunemaitre, Xavier X
Publication Date: 2015-12
Variant appearance in text: COL3A1: 4011+1G>A
PubMed Link:
25758994
Variant Present in the following documents:
Main text
View BVdb publication page