Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.H2102_G2103insFs
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MYO15A

NM_016239.4:p.H2102_G2103insFs

Associated Papers

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

Fu Y et al.

Bmc Medical Genomics, 2022

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Hirsch Y et al.

European Journal of Human Genetics : Ejhg, 2021

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

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

Chang MY et al.

Molecules and Cells, 2015

Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.

Miyagawa M et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Yang T et al.

Orphanet Journal of Rare Diseases, 2013

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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."