Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.L697W
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MYO3A

NM_017433.5:p.L697W

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants.

Elbagoury NM et al.

European Journal of Pediatrics, 2025

The Prevalence and Clinical Characteristics of MYO3A-Associated Hearing Loss in 15,684 Hearing Loss Patients.

Maekawa K et al.

Genes, 2025

The dynamics of actin protrusions can be controlled by tip-localized myosin motors.

Cirilo JA et al.

The Journal of Biological Chemistry, 2024

Pathophysiology of human hearing loss associated with variants in myosins.

Miyoshi T et al.

Frontiers in Physiology, 2024

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.

Gunther LK et al.

Molecular Biology of the Cell, 2022

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.

Bueno AS et al.

European Journal of Human Genetics : Ejhg, 2022

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Souissi A et al.

Journal of Biomolecular Structure & Dynamics, 2022

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Reis CS et al.

Cytogenetic and Genome Research, 2022

Functional Role of Class III Myosins in Hair Cells.

Cirilo JA et al.

Frontiers in Cell and Developmental Biology, 2021

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.

Doll J et al.

Molecular Genetics & Genomic Medicine, 2020

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Dantas VGL et al.

Scientific Reports, 2018

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