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GJB1 c.309_311del ;(p.K104del)
Variant ID: X-70443861-GAGA-G
NM_000166.5(
GJB1
):c.309_311del;(p.K104del)
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:
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.
Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28
Variant appearance in text: GJB1: 305_307del
PubMed Link:
36855133
Variant Present in the following documents:
12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page