Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.R483*
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BBS9

NM_198428.3:p.R483*

Associated Papers

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Deitch I et al.

Current Issues in Molecular Biology, 2024

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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."