Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y658*
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BBS10

NM_024685.4:p.Y658*

Associated Papers

Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome.

Liu X et al.

Experimental Eye Research, 2025

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.

Gupta N et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

Bardet-Biedl syndrome and related disorders in Japan.

Hirano M et al.

Journal of Human Genetics, 2020

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

Ohto T et al.

Human Genome Variation, 2017

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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."