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GJB1 c.106_107delinsGC ;(p.L36A)
Variant ID: X-70443663-CT-GC
NM_000166.5(
GJB1
):c.106_107delinsGC;(p.L36A)
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:
Compendium of proteins containing segments that exhibit zero-tolerance to amino acid variation in humans.
Protein Science : A Publication Of The Protein Society
Sanders, Adam L AL; Hermanson, Jake N JN; Samuels, David C DC; Plate, Lars L; Sanders, Charles R CR
Publication Date: 2022-09
Variant appearance in text: GJB1: L36a
PubMed Link:
36040257
Variant Present in the following documents:
Main text
View BVdb publication page