Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.K811*
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USH2A

NM_206933.4:p.K811*

Associated Papers

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

Valenzano R et al.

International Journal of Molecular Sciences, 2026

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 › TableS2.xlsx › Feuil1

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.

Fakin A et al.

International Journal of Molecular Sciences, 2021

34638692 (PubMed )
Supplement: ijms-22-10352-s001.zip › ijms-1381333-supplementary.pdf
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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."