Varaico: Literature-Extracted Genetic Variants

Gene:MKS1
Variant:p.R475C
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MKS1

NM_017777.4:p.R475C

Associated Papers

Early-onset diabetes in Africa: A mini-review of the current genetic profile.

Adadey SM et al.

European Journal of Medical Genetics, 2023

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.

Dallali H et al.

Frontiers in Genetics, 2021

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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."