×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
30314436
2018
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
BEFREE
Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome ).
30173992
2018
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
GENOMICS_ENGLAND
Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome ).
30173992
2018
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
28690861
2017
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
A new missense mutation in the paired domain of the mouse Pax3 gene.
28381738
2017
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
28043919
2017
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
27759048
2016
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.
25932447
2015
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit.
20095975
2010
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.
18983540
2008
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CTD_human
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
18553554
2008
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
Pax3 functions at a nodal point in melanocyte stem cell differentiation.
15729346
2005
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GermlineCausalMutation
disease
ORPHANET
This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.
12949970
2003
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
BEFREE
This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.
12949970
2003
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
UNIPROT
This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.
12949970
2003
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
BEFREE
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome ) segregating with a heterozygous deletion in the paired box domain of PAX3 : a simple variant or a true syndrome?
11683776
2001
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
GENOMICS_ENGLAND
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
9500554
1998
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
BEFREE
Myelomeningocele and Waardenburg syndrome (type 3 ) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect.
9482647
1998
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
CLINGEN
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
7897628
1995
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
UNIPROT
Homozygosity for Waardenburg syndrome.
7726174
1995
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GermlineCausalMutation
disease
ORPHANET
Homozygosity for Waardenburg syndrome.
7726174
1995
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
UNIPROT
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III .
8447316
1993
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GermlineCausalMutation
disease
ORPHANET
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III .
8447316
1993
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
GeneticVariation
disease
BEFREE
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III .
8447316
1993
×
Entrez Id:
5077
Gene Symbol:
PAX3
PAX3
0.750
Biomarker
disease
GENOMICS_ENGLAND
The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III .
8447316
1993