×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
GeneticVariation
disease
BEFREE
We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V , p.K836N , and p.E864K ) known to cause Wolfram-like syndrome , and five were novel mutations.
29529044
2018
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V, p.K836N, and p.E864K) known to cause Wolfram-like syndrome , and five were novel mutations.
29529044
2018
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.
28802351
2017
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
GeneticVariation
disease
BEFREE
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome : A Case Report.
27217304
2016
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea.
27341211
2016
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
27395765
2016
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
25250959
2014
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
21538838
2011
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
20069065
2010
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.
18544103
2008
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
16648378
2006
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
12073007
2002
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.320
Biomarker
disease
CLINGEN
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
11709537
2001