Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R178L
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CDKL5

NM_001323289.2:p.R178L

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.

Ivaniuk A et al.

Genetics in Medicine Open, 2024

39669599 (PubMed )
Supplement: mmc1.pdf

Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

Chen J et al.

Journal of Human Genetics, 2023

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group
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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."