Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.E2212K
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MYO15A

NM_016239.4:p.E2212K

Associated Papers

The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Bharadwaj T et al.

Clinical Genetics, 2025

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Janssen AEJ et al.

Nature Communications, 2024

39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 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

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

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

Rehman AU et al.

Human Mutation, 2016

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM et al.

Human Genetics, 2016

26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
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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."