Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.Y1392*
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MYO15A

NM_016239.4:p.Y1392*

Associated Papers

Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.

Fu Y et al.

Bmc Medical Genomics, 2022

Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.

Nasrniya S et al.

Laboratory Medicine, 2022

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Quaio CRAC et al.

Frontiers in Genetics, 2022

36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.

Sarmadi A et al.

Molecular Biology Reports, 2020

The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.

Farjami M et al.

Iranian Journal of Basic Medical Sciences, 2020

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

Zhang J et al.

Bmc Medical Genetics, 2019

Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

Mehregan H et al.

Archives of Iranian Medicine, 2019

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.

Mehregan H et al.

International Journal of Pediatric Otorhinolaryngology, 2019

Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations.

Akbariazar E et al.

Clinical Medicine Insights. Case Reports, 2019

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Rehman AU et al.

Human Mutation, 2016

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

Sloan-Heggen CM et al.

Journal of Medical Genetics, 2015

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

Chang MY et al.

Molecules and Cells, 2015

Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.

Miyagawa M et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

Xia H et al.

Plos One, 2015

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

Fattahi Z et al.

American Journal of Medical Genetics. Part A, 2012

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.

Bashir R et al.

European Journal of Medical Genetics, 2012

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Shearer AE et al.

The Laryngoscope, 2009

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Nal N et al.

Human Mutation, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."