ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
|
31160754 |
2019 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
|
18294064 |
2007 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.
|
15757815 |
2005 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
|
15482471 |
2004 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described.
|
12072059 |
2002 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described.
|
12072059 |
2002 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
|
12172392 |
2002 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
|
10713883 |
2000 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
10376574 |
1999 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
|
9285800 |
1997 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
|
9336442 |
1997 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
|
9328482 |
1997 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|