Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.Q91insFs
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BBS5

NM_152384.3:p.Q91insFs

Associated Papers

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Rustad CF et al.

Orphanet Journal of Rare Diseases, 2025

Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.

Feizabadi MH et al.

Biochemical Genetics, 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."