Varaico: Literature-Extracted Genetic Variants

Gene:MKS1
Variant:p.R510fs
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MKS1

NM_017777.4:p.R510fs

Associated Papers

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.

Luo M et al.

Frontiers in Genetics, 2020

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG et al.

Journal of Medical Genetics, 2016

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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."