Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y469*
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BBS10

NM_024685.4:p.Y469*

Associated Papers

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK et al.

Investigative Ophthalmology & Visual Science, 2021

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Kerr EN et al.

Clinical Genetics, 2016

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S et al.

Human Genetics, 2011

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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."