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COL4A5 c.3614_3615delinsAG ;(p.G1205E)
Variant ID: X-107911558-GT-AG
NM_033380.2(
COL4A5
):c.3614_3615delinsAG;(p.G1205E)
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:
Type IV Collagen Is Essential for Proper Function of Integrin-Mediated Adhesion in Drosophila Muscle Fibers.
International Journal Of Molecular Sciences
Kiss, András A AA; Somlyai-Popovics, Nikoletta N; Kiss, Márton M; Boldogkői, Zsolt Z; Csiszár, Katalin K; Mink, Mátyás M
Publication Date: 2019-10-16
Variant appearance in text: COL4A5: G1205E
PubMed Link:
31623094
Variant Present in the following documents:
Main text
ijms-20-05124.pdf
View BVdb publication page