Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.G264R
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BBS7

NM_176824.3:p.G264R

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

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.

Orlova M et al.

Frontiers in Genetics, 2024

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