Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.G559D
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BBS1

NM_024649.5:p.G559D

Associated Papers

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis EE et al.

Nature Genetics, 2011

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H et al.

American Journal of Human Genetics, 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."