Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.C377_G379delFs
Back to variants list

BBS1

NM_024649.5:p.C377_G379delFs

Associated Papers

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Mykytyn K et al.

American Journal of Human Genetics, 2003

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."