Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.P39P
Back to variants list

MKKS

NM_170784.3:p.P39P

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

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

Smaoui N et al.

Investigative Ophthalmology & Visual Science, 2006

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

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."