Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.T165A
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MYO7A

NM_000260.4:p.T165A

Associated Papers

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Mansard L et al.

International Journal of Molecular Sciences, 2021

34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS1.xlsx › Feuil1

Four-year follow-up of diagnostic service in USH1 patients.

Roux AF et al.

Investigative Ophthalmology & Visual Science, 2011

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D et al.

Human Mutation, 2008

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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."