Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.P869S
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CDK13

NM_003718.5:p.P869S

Associated Papers

Oncogenic CDK13 mutations impede nuclear RNA surveillance.

Insco ML et al.

Science (new York, N.y.), 2023

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Firasat S et al.

Molecular Biology Reports, 2021

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

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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."