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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHO

Variant:p.L84insFs

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RHO

NM_000539.3:p.L84insFs

hg38:chr3:129528981 A>AC

Associated Papers

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

Reurink J et al.

Npj Genomic Medicine, 2022

35672333 (PubMed )

Supplement: 41525_2022_306_MOESM1_ESM.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."