Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R146P
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BBS1

NM_024649.5:p.R146P

Associated Papers

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Kulyamzin S et al.

Genes, 2025

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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."