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GJB1 c.113T>C ;(p.V38A)
Variant ID: X-70443670-T-C
NM_000166.5(
GJB1
):c.113T>C;(p.V38A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23
Variant appearance in text: GJB1: V38A
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
GJB1 Mutation-A Disease Spectrum: Report of Case Series.
Frontiers In Neurology
Niu, Jingwen J; Dai, Yi Y; Liu, Mingsheng M; Li, Yi Y; Ding, Qingyun Q; Guan, Yuzhou Y; Cui, Liying L; Jin, Liri L
Publication Date: 2019
Variant appearance in text: GJB1: Val38Ala
PubMed Link:
32010055
Variant Present in the following documents:
Main text
fneur-10-01406.pdf
View BVdb publication page
Gap junctions in inherited human disorders of the central nervous system.
Biochimica Et Biophysica Acta
Abrams, Charles K CK; Scherer, Steven S SS
Publication Date: 2012-08
Variant appearance in text: GJB1: V38A
PubMed Link:
21871435
Variant Present in the following documents:
Main text
View BVdb publication page