Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.R206C
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MYO7A

NM_000260.4:p.R206C

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Select autosomal dominant DFNA11 deafness variants activate Myo7A targeting in epithelial cells.

Acharya P et al.

Journal of Cell Science, 2025

Select autosomal dominant DFNA11 deafness mutations activate Myo7A in epithelial cells.

Acharya P et al.

Biorxiv : the Preprint Server for Biology, 2024

Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains.

Joo SY et al.

Biomedicines, 2022

The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

Lu J et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 2020

Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan.

Su MC et al.

International Journal of Pediatric Otorhinolaryngology, 2009

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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."