Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.A406fs
Back to variants list

BBS1

NM_024649.5:p.A406fs

Associated Papers

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Delvallée C et al.

Clinical Genetics, 2021

Reproduction Function in Male Patients With Bardet Biedl Syndrome.

Koscinski I et al.

The Journal of Clinical Endocrinology and Metabolism, 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."