GJB1 c.537C>A ;(p.C179*)

Variant ID: X-70444094-C-A

NM_000166.5(GJB1):c.537C>A;(p.C179*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis.

Journal Of Clinical Medicine
Hwang, Sungeun S; Park, Chang-Hyun CH; Kim, Regina Eun-Young RE; Kim, Hyeon Jin HJ; Choi, Yun Seo YS; Kim, Sol-Ah SA; Yoo, Jeong Hyun JH; Chung, Ki Wha KW; Choi, Byung-Ok BO; Lee, Hyang Woon HW
Publication Date: 2021-10-26

Variant appearance in text: GJB1: C179X
PubMed Link: 34768465
Variant Present in the following documents:
  • Main text
  • jcm-10-04945.pdf
View BVdb publication page