Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.R880C
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CDK13

NM_003718.5:p.R880C

Associated Papers

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.

Morison LD et al.

European Journal of Human Genetics : Ejhg, 2023

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1

Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder.

Cui D et al.

Frontiers in Genetics, 2022

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

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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."