Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R429insFs
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BBS1

NM_024649.5:p.R429insFs

Associated Papers

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.

Zacchia M et al.

Kidney International Reports, 2025

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Manara E et al.

Italian Journal of Pediatrics, 2019

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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."