A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy
Author:
Publisher
The Korean Child Neurology Society
Subject
Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Link
http://annchildneurol.org/upload/pdf/acn-2022-00276.pdf
Reference10 articles.
1. Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
2. Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability
3. A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay
4. Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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