|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
|
23451239 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
|
10930322 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
|
20613545 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
|
19375528 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
|
21569298 |
2011 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.
|
24105371 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
|
27068579 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
|
9171833 |
1997 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran.
|
28451532 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
|
27610647 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
|
28472130 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
|
9382091 |
1997 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.
|
25558175 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B.
|
22898263 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
|
25788563 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.
|
23148716 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
|
23559863 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
|
26226137 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Electroretinogram assessment of children with sensorineural hearing loss: implications for screening.
|
26486028 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Four-year follow-up of diagnostic service in USH1 patients.
|
21436283 |
2011 |