Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R160W
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BBS1

NM_024649.5:p.R160W

Associated Papers

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Stephenson KAJ et al.

International Journal of Molecular Sciences, 2022

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."