Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.S236P
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MKKS

NM_170784.3:p.S236P

Associated Papers

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

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL et al.

American Journal of Human Genetics, 2003

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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."