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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.E767*

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USH2A

NM_206933.4:p.E767*

hg38:chr1:216247095 C>A

Associated Papers

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.

Vitale E et al.

Iubmb Life, 2025

40474765 (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."