Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.T627I
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BBS10

NM_024685.4:p.T627I

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

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

White DR et al.

European Journal of Human Genetics : Ejhg, 2007

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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."