Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.Q672*
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BBS9

NM_198428.3:p.Q672*

Associated Papers

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.

Seyedtaghia MR et al.

Biochemical Genetics, 2025

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.

Akbaroghli S et al.

Iranian Journal of Child Neurology, 2022

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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."