Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R462_Y467insFs
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BBS1

NM_024649.5:p.R462_Y467insFs

Associated Papers

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

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."