Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.D252N
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BBS7

NM_176824.3:p.D252N

Associated Papers

Compound heterozygous mutations in BBS7 cause kidney abnormalities in Bardet-Biedl syndrome.

Min J et al.

Genes & Diseases, 2026

Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A.

Fu Q et al.

Stem Cell Research, 2021

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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."