Associated Papers
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
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
25865493 (PubMed )
Supplement: mmc1.pdf
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