Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.R1718Splc
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CHD2

NM_001271.4:p.R1718Splc

Associated Papers

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

Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.

Wang X et al.

Genes, 2022

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

Zhu L et al.

Frontiers in Genetics, 2022

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

CHD2-related epilepsy: novel mutations and new phenotypes.

Chen J et al.

Developmental Medicine and Child Neurology, 2020

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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."