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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.C766delFs

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USH2A

NM_206933.4:p.C766delFs

hg38:chr1:216247097 CA>C

Associated Papers

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

38872169 (PubMed )

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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."