Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C766*
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USH2A

NM_206933.4:p.C766*

Associated Papers

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

Ogorodova N et al.

International Journal of Molecular Sciences, 2024

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Lopez-de la Rosa A et al.

Orphanet Journal of Rare Diseases, 2024

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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."