Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.A397A
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BBS12

NM_152618.3:p.A397A

Associated Papers

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD et al.

Human Mutation, 2010

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].

Hjortshøj TD et al.

Ugeskrift for Laeger, 2005

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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."