Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.I314delFs
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BBS2

NM_031885.5:p.I314delFs

Associated Papers

Widening the spectrum of players affected by genetic changes in Wilms tumor relapse.

Ciceri S et al.

Iscience, 2024

39262773 (PubMed )
Supplement: mmc1.xlsx › per_paper

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S et al.

Human Genetics, 2011

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY et al.

Human Molecular Genetics, 2001

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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."