Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.D16N
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BBS5

NM_152384.3:p.D16N

Associated Papers

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.

Gnanasekaran H et al.

Clinical Genetics, 2023

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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."