Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.C201Y
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BBS10

NM_024685.4:p.C201Y

Associated Papers

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome.

Tao T et al.

European Journal of Ophthalmology, 2022

Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.

Tao T et al.

International Ophthalmology, 2020

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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."