Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.V40F
Back to variants list

BBS2

NM_031885.5:p.V40F

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE et al.

Clinical Genetics, 2019

31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."