Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R160Splc
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BBS1

NM_024649.5:p.R160Splc

Associated Papers

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.

Orlova M et al.

Frontiers in Genetics, 2024

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs.

Schmid F et al.

Human Gene Therapy, 2013

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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."