Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.S225insFs
Back to variants list

BBS5

NM_152384.3:p.S225insFs

Associated Papers

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.

Akbaroghli S et al.

Iranian Journal of Child Neurology, 2022

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."