Associated Papers
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
Yüksel Z et al.
American Journal of Medical Genetics. Part A, 2019
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27171548 (PubMed )
Supplement: NIHMS769804-supplement-Supplementary___Appendix__online_only_material__etc___2.xls › ExomeVariants
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