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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.C768C

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USH2A

NM_206933.4:p.C768C

hg38:chr1:216247090 G>A

Associated Papers

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

Reurink J et al.

Npj Genomic Medicine, 2022

35672333 (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."