Novel SMC1A frameshift mutations in children with developmental delay and epilepsy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference33 articles.
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1. Cohesin — bridging the gap among gene transcription, genome stability, and human diseases;FEBS Letters;2024-06-09
2. SMC1A epilepsy syndrome: clinical data from a large international cohort;American Journal of Medical Genetics Part A;2024-02-29
3. SMC1A-Related Developmental and Epileptic Encephalopathies: A Case Report and Literature Review;IFMBE Proceedings;2023-10-19
4. Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy;Genes;2023-03-31
5. Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report;Brain and Development;2022-09
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