Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.K734E
Back to variants list

CDK13

NM_003718.5:p.K734E

Associated Papers

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Acharya A et al.

Journal of Human Genetics, 2021

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

van den Akker WMR et al.

Clinical Genetics, 2018

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL et al.

Genome Medicine, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."