Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.E1988_E1989Splc
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MYO15A

NM_016239.4:p.E1988_E1989Splc

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Damrongchietanon T et al.

Scientific Reports, 2025

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

Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.

Xiao Y et al.

Genetic Testing and Molecular Biomarkers, 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_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

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.

Wang L et al.

Journal of Clinical Laboratory Analysis, 2022

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

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 of six Chinese families with hereditary non-syndromic hearing loss.

Liang P et al.

International Journal of Pediatric Otorhinolaryngology, 2021

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Wu CC et al.

Genes, 2019

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

Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.

Chen PY et al.

Ear and Hearing, 0

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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."