Varaico: Literature-Extracted Genetic Variants

Gene:MCIDAS
Variant:p.G366D
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MCIDAS

NM_001190787.3:p.G366D

Associated Papers

Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes.

Rao VG et al.

Genesis (new York, N.y. : 2000), 2021

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.

Boon M et al.

Nature Communications, 2014

Multicilin drives centriole biogenesis via E2f proteins.

Ma L et al.

Genes & Development, 2014

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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."