rs1052030
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
|
10094549 |
1999 |
rs1057517774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
|
16679490 |
2006 |
rs1057517774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
|
20052763 |
2010 |
rs1057517774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Four-year follow-up of diagnostic service in USH1 patients.
|
21436283 |
2011 |
rs1057517774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
rs1057517857
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517857
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
|
19683999 |
2010 |
rs1060499716
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060499800
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060499801
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060499801
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
|
25798947 |
2015 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
|
7870171 |
1995 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
|
9718356 |
1998 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the MYO7A gene.
|
10447383 |
1999 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
|
15660226 |
2005 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
|
12112664 |
2002 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
|
10930322 |
2000 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
|
23559863 |
2013 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
|
9382091 |
1997 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.
|
10364543 |
1999 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
|
10094549 |
1999 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
|
24831256 |
2014 |
rs111033174
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
|
16679490 |
2006 |