Publications:

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Neurogenetics

Grosz, Bianca R BR; Svaren, John J; Perez-Siles, Gonzalo G; Nicholson, Garth A GA; Kennerson, Marina L ML

Publication Date: 2021-07

Variant appearance in text: rs753207004

PubMed Link: 34089394

Variant Present in the following documents:

• Main text
• 10048_2021_Article_650.pdf

View BVdb publication page