Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.G48Splc
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BBS5

NM_152384.3:p.G48Splc

Associated Papers

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."