Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.Q624Q
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BBS12

NM_152618.3:p.Q624Q

Associated Papers

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

Ladino LY et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2018

Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.

Nikkhah E et al.

Cell Journal, 2018

A recombinant BBSome core complex and how it interacts with ciliary cargo.

Klink BU et al.

Elife, 2017

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

Ajmal M et al.

Molecular Vision, 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."