Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.P1244R
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MYO7A

NM_000260.4:p.P1244R

Associated Papers

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

Mutational Landscape of Esophageal Squamous Cell Carcinoma in an Indian Cohort.

Mangalaparthi KK et al.

Frontiers in Oncology, 2020

32974170 (PubMed )
Supplement: Table_6.pdf

Structures of usher syndrome 1 proteins and their complexes.

Pan L et al.

Physiology (bethesda, Md.), 2012

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.

Wu L et al.

Science (new York, N.y.), 2011

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T et al.

Human Mutation, 2006

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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."