Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.K1245fs
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CHD2

NM_001271.4:p.K1245fs

Associated Papers

Characterizing CHD2-associated epilepsy: A multicenter study and pooled analysis of the literature.

Puri AG et al.

Seizure, 2025

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

Padilla H et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

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

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

Mayo S et al.

International Journal of Molecular Sciences, 2021

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."