Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R160Splc
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BBS1

NM_024649.5:p.R160Splc

Associated Papers

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J et al.

Human Genetics, 2010

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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."