Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.I178I
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MKKS

NM_170784.3:p.I178I

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

Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population.

Rouskas K et al.

International Journal of Obesity (2005), 2008

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H et al.

European Journal of Human Genetics : Ejhg, 2005

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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."