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HP c.796_797delinsGC ;(p.C266A)
Variant ID: 16-72094364-TG-GC
NM_005143.3(
HP
):c.796_797delinsGC;(p.C266A)
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:
Structural basis for feedback and pharmacological inhibition of Saccharomyces cerevisiae glutamate cysteine ligase.
The Journal Of Biological Chemistry
Biterova, Ekaterina I EI; Barycki, Joseph J JJ
Publication Date: 2010-05-07
Variant appearance in text: HP: C266A
PubMed Link:
20220146
Variant Present in the following documents:
Main text
View BVdb publication page