Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.R244H
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MYO7A

NM_000260.4:p.R244H

Associated Papers

Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.

Han JH et al.

Journal of Clinical Medicine, 2024

38610765 (PubMed )
Supplement: jcm-13-02001-s001.zip › jcm-2913174-supplementary.xlsx › Supplement_Table_S2

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Ramzan M et al.

Journal of Human Genetics, 2023

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.

Kabahuma RI et al.

Genes, 2021

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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."