Varaico: Literature-Extracted Genetic Variants

Gene:BBIP1
Variant:p.L58*
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BBIP1

NM_001195305.3:p.L58*

Associated Papers

Structure of the human BBSome core complex.

Klink BU et al.

Elife, 2020

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

Scheidecker S et al.

Journal of Medical Genetics, 2014

Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia.

Loktev AV et al.

Cell Reports, 2013

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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."