Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y559insFs
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BBS10

NM_024685.4:p.Y559insFs

Associated Papers

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Manara E et al.

Italian Journal of Pediatrics, 2019

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Shahi RB et al.

Bmc Cancer, 2019

30947698 (PubMed )
Supplement: 12885_2019_5494_MOESM11_ESM.xlsx › Additional_file_11
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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."