Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.W2148R
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MYO15A

NM_016239.4:p.W2148R

Associated Papers

Characteristics and Prognosis of Patients With Non-Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations.

Wang Y et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

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

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Wang XH et al.

Neural Plasticity, 2021

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees.

Khatami S et al.

Bmc Medical Genetics, 2020

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.

Wang L et al.

Neural Plasticity, 2020

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.

Bai X et al.

Molecular Genetics & Genomic Medicine, 2019

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

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family.

Reiisi S et al.

Iranian Journal of Basic Medical Sciences, 2016

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