Varaico: Literature-Extracted Genetic Variants

Gene:CDK10
Variant:p.E47delFs
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CDK10

NM_052988.5:p.E47delFs

Associated Papers

Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants.

Yigit ZM et al.

American Journal of Medical Genetics. Part A, 2026

40960173 (PubMed )
Supplement: supplement_1.xlsx › Sayfa1

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM2_ESM.pdf

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Windpassinger C et al.

American Journal of Human Genetics, 2017

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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."