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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHO

Variant:p.K311_Q312delFs

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RHO

NM_000539.3:p.K311_Q312delFs

hg38:chr3:129532768 AGCAG>A

Associated Papers

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Tanner G et al.

Human Mutation, 2009

18837008 (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."