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Paper Details

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
1
2023
HeLa cell, HeLa cell lines, SNAPC4, SNAPC4 variants, SNAPc, SNAPc subunits, bi-allelic SNAPC4 variants, bi-allelic variants, cerebral, cerebellar, or basal ganglia volume loss, developmental regression, fibroblasts, gait alterations, human, human genes, isoforms, neuroregression, oromotor dysfunction, paraparesis, progressive, progressive spasticity, small nuclear RNAs, snRNA, snRNA gene, snRNA-activating protein complex, snRNAs, spastic paraparesis, spasticity, unaffected cells
Author NameAffiliation
Prashant SharmaNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Matthew J HuentelmanCenter for Rare Childhood Disorders, The Translational Genomics Research Institute
Maria Cristina DigilioBambino Gesu Children Hospital, IRCCS
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
Ellen MacnamaraNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
David R AdamsNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, USA Office of the Clinical Director, National Human Genome Research Institute
David R AdamsNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, USA Office of the Clinical Director, National Human Genome Research Institute
Maria T AcostaNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Cynthia J TifftNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, USA Office of the Clinical Director, National Human Genome Research Institute
Cynthia J TifftNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, USA Office of the Clinical Director, National Human Genome Research Institute
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute
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