Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.L349W
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BBS2

NM_031885.5:p.L349W

Associated Papers

Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.

Ludlam WG et al.

The Journal of Biological Chemistry, 2019

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

The oligogenic properties of Bardet-Biedl syndrome.

Katsanis N

Human Molecular Genetics, 2004

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hoskins BE et al.

Human Mutation, 2003

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Badano JL et al.

Human Molecular Genetics, 2003

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL et al.

American Journal of Human Genetics, 2003

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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."