Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.A162fs
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CDK13

NM_003718.5:p.A162fs

Associated Papers

A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant.

Gibbs M et al.

Case Reports in Genetics, 2023

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM7_ESM.xlsx › Hoja1

Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.

Cui X et al.

Molecular Genetics & Genomic Medicine, 2022

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."