Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R440Q
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BBS1

NM_024649.5:p.R440Q

Associated Papers

The cilium: a cellular antenna with an influence on obesity risk.

Mariman EC et al.

The British Journal of Nutrition, 2016

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R et al.

Human Mutation, 2007

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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."