Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.L327P
Back to variants list

BBS4

NM_033028.5:p.L327P

Associated Papers

Functional modelling of a novel mutation in BBS5.

Al-Hamed MH et al.

Cilia, 2014

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.

Gascue C et al.

Pediatric Nephrology (berlin, Germany), 2011

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Zaghloul NA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).

Ye X et al.

Dna Sequence : the Journal of Dna Sequencing and Mapping, 2004

Beyond Mendel: an evolving view of human genetic disease transmission.

Badano JL et al.

Nature Reviews. Genetics, 2002

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."