Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.E239V
Back to variants list

DIAPH1

NM_005219.5:p.E239V

Associated Papers

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K et al.

Human Mutation, 2003

Non-syndromic autosomal-dominant deafness.

Petersen MB

Clinical Genetics, 2002

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova IN et al.

Human Molecular Genetics, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."