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.




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