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SI c.3815G>T ;(p.G1272V)
Variant ID: 3-164733813-C-A
NM_001041.3(
SI
):c.3815G>T;(p.G1272V)
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:
Collagen's enigmatic, highly conserved N-glycan has an essential proteostatic function.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Rasia C RC; Wong, Madeline Y MY; DiChiara, Andrew S AS; Hosseini, Azade S AS; Shoulders, Matthew D MD
Publication Date: 2021-03-09
Variant appearance in text: SI: G1272V
PubMed Link:
33674390
Variant Present in the following documents:
Main text
View BVdb publication page