Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.K2059_E2060Splc
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MYO15A

NM_016239.4:p.K2059_E2060Splc

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

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.

Liu C et al.

Frontiers in Genetics, 2025

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.

Zheng K et al.

Bmc Medical Genomics, 2024

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_S5

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Yang JY et al.

Bmc Medical Genomics, 2022

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

Fu Y et al.

Bmc Medical Genomics, 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

[Analysis of MYO15A variation in children with DFNB3].

Ren SM et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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

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

Zhang J et al.

Bmc Medical Genetics, 2019

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Sun T et al.

Investigative Ophthalmology & Visual Science, 2018

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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."