Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.V665fs
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BBS12

NM_152618.3:p.V665fs

Associated Papers

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

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L et al.

European Journal of Human Genetics : Ejhg, 2012

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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."