Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.Y24Y
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BBS2

NM_031885.5:p.Y24Y

Associated Papers

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Delvallée C et al.

Clinical Genetics, 2021

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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."