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COG1 c.2318T>G ;(p.L773R)
Variant ID: 17-71199868-T-G
NM_018714.2(
COG1
):c.2318T>G;(p.L773R)
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:
Golgi inCOGnito: From vesicle tethering to human disease.
Biochimica Et Biophysica Acta. General Subjects
D'Souza, Zinia Z; Taher, Farhana S FS; Lupashin, Vladimir V VV
Publication Date: 2020-11
Variant appearance in text: COG1: L773R
PubMed Link:
32730773
Variant Present in the following documents:
Main text
View BVdb publication page