Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.C99R
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MKKS

NM_170784.3:p.C99R

Associated Papers

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Milibari D et al.

Genes, 2024

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

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

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Kerr EN et al.

Clinical Genetics, 2016

BBS mutational analysis: a strategic approach.

Billingsley G et al.

Ophthalmic Genetics, 2011

21463199 (PubMed )
Supplement: supplement_1.pdf

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G et al.

Journal of Medical Genetics, 2010

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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."