Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.N192D
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BBS5

NM_152384.3:p.N192D

Associated Papers

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Hjortshøj TD et al.

American Journal of Medical Genetics. Part A, 2008

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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."