Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.Q909*
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CHD2

NM_001271.4:p.Q909*

Associated Papers

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_S4.xlsx › All_the_mutants

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

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."