Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.R643H
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BBS2

NM_031885.5:p.R643H

Associated Papers

Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.

Bonetti G et al.

Journal of Clinical Medicine, 2022

36556146 (PubMed )
Supplement: jcm-11-07531-s001.zip › jcm-2023798-supplementary.pdf

Understanding mutational effects in digenic diseases.

Gazzo A et al.

Nucleic Acids Research, 2017

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

Further support for digenic inheritance in Bardet-Biedl syndrome.

Fauser S et al.

Journal of Medical 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."