Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.R3134*
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MYO15A

NM_016239.4:p.R3134*

Associated Papers

The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants.

Morovvati S et al.

Scientific Reports, 2025

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9

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

Fu Y et al.

Bmc Medical Genomics, 2022

Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.

Xiang YB et al.

Molecular Genetics & Genomic Medicine, 2020

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

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

Zhang J et al.

Bmc Medical Genetics, 2019

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.

Sun Y et al.

Medicine, 2019

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

Rehman AU et al.

Human Mutation, 2016

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

Schrauwen I et al.

American Journal of Medical Genetics. Part A, 2013

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