Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.T645M
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CHD2

NM_001271.4:p.T645M

Associated Papers

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Velayutham D et al.

Cells, 2025

41294844 (PubMed )
Supplement: cells-14-01791-s001.zip › cells-3910392-supplementary › Table_S2.xlsx › Table_S3

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Cogliati F et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

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

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.

Feng W et al.

Pediatric Investigation, 2022

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

Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.

Lamar KJ et al.

Frontiers in Molecular Neuroscience, 2018

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

Lebrun N et al.

Clinical Genetics, 2017

An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Rigolin GM et al.

Oncotarget, 2017

28427204 (PubMed )
Supplement: oncotarget-08-28008-s003.xlsx › Foglio1

Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Rigolin GM et al.

Journal of Hematology & Oncology, 2016

27633522 (PubMed )
Supplement: 13045_2016_320_MOESM1_ESM.xlsx › Foglio1
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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."