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Paper Details

A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv
0
2023
B RG1- a ssociated factor, BAF, BAF chromatin remodeling complex, BAFopathy, CH, Chromo, DD, DNA-interacting SWIRM, DNM, DNMs, G0, G1, G1 mutants, Glu, Glu-rich, Hydrocephalic -, Hydrocephalic -mutant, Hydrocephalus, Myb, Patients, RNA, S MARCC1, S MARCC1- a ssociated D evelopmental D ysgenesis S yndrome, SMARCC1, SaDDS, aqueductal stenosis, autism spectrum disorder, brain and cardiac defects, brain and heart defects, brain or cardiac defects, c.1571+, candidate, canonical splice site DNMs, cardiac defects, cerebral ventriculomegaly, congenital hydrocephalus, congenital structural brain disorders, developmental delay, exomes, fetal neural progenitors, human, human wild, hydrocephalus, neural progenitor cell, neural progenitors, neural stem cell, patient, patients, risk genes, structural, ventriculomegalic

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