GJB1 c.131G>C ;(p.W44S)

Variant ID: X-70443688-G-C

NM_000166.5(GJB1):c.131G>C;(p.W44S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences
Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y
Publication Date: 2022-04-12

Variant appearance in text: GJB1: Trp44Ser
PubMed Link: 35457072
Variant Present in the following documents:
  • Main text
  • ijms-23-04255.pdf
View BVdb publication page



Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research
Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X
Publication Date: 2009-06-24

Variant appearance in text: GJB1: W44S
PubMed Link: 19230829
Variant Present in the following documents:
  • Main text
View BVdb publication page