Publications:

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.

Medicine

Huang, Xinyi X; Wu, Xiaoli X; Wu, Bei B; Mou, Jing J; Ma, Xingwei X

Publication Date: 2022-11-11

Variant appearance in text: GJB1: 121G>A

PubMed Link: 36397455

Variant Present in the following documents:

• Main text
• medi-101-e31733.pdf

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GJB1: E41K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB1: E41K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page