Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.R559Splc
Back to variants list

BBS7

NM_176824.3:p.R559Splc

Associated Papers

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Rustad CF et al.

Orphanet Journal of Rare Diseases, 2025

RIN2 and BBS7 variants as cause of a coincidental syndrome.

Shaukat M et al.

European Journal of Medical Genetics, 2020

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."