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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS2

Variant:p.A91insFs

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BBS2

NM_031885.5:p.A91insFs

hg38:chr16:56514526 G>GC

Associated Papers

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

38407766 (PubMed )

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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."