|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
|
24651602 |
2014 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
|
21965087 |
2012 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
|
20478267 |
2010 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
|
16971891 |
2006 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
|
12949970 |
2003 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.
|
10779847 |
2000 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
|
9452070 |
1998 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
|
9541113 |
1998 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
|
9067759 |
1997 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
|
8845842 |
1996 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The mutational spectrum in Waardenburg syndrome.
|
8589691 |
1995 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
|
7825605 |
1995 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
|
8533800 |
1995 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
|
7833953 |
1994 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
|
7981674 |
1994 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
|
8447316 |
1993 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
|
8490648 |
1993 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
|
1347148 |
1992 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
|
1347149 |
1992 |
|
rs267606931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
|
1303193 |
1992 |
|
rs267606931
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|