Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.E1242delFs
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CHD2

NM_001271.4:p.E1242delFs

Associated Papers

CHD2-related epilepsy with eyelid myoclonia: Report of three cases.

Padilla H et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

LaFlamme CW et al.

Nature Communications, 2024

39107278 (PubMed )
Supplement: 41467_2024_50159_MOESM5_ESM.xlsx › SupplementaryData2B

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 19R03642.xls › SNVIndel

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu L et al.

Frontiers in Genetics, 2022

35222528 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_S1.xlsx › single-nucleotide_or_indel

Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.

Luo X et al.

Frontiers in Cell and Developmental Biology, 2022

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Mayo S et al.

International Journal of Molecular Sciences, 2021

Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.

Mathot L et al.

Cancer Research, 2017

28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf

CHD2 variants are a risk factor for photosensitivity in epilepsy.

Galizia EC et al.

Brain : a Journal of Neurology, 2015

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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."