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Paper Details

Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Cold Spring Harb Mol Case Stud
0
2022
O-phosphoseryl, O-phosphoseryl-tRNA(Sec) selenium transferase, PCHT 2D, Sec, autosomal recessive pontocerebellar hypoplasia type 2D, c, c.846G, cerebral and cerebellar, cerebrocerebellar atrophy, children, developmental delays, epileptic encephalopathy, hypotonia, initiator codon, mRNA, microcephaly, minigene, neurodegenerative condition, pontocerebellar hypoplasia type 2D, scoliosis, seizures, selenium, synonymous coding variants, ventilator-dependent respiratory insufficiency, white matter volume loss
Author NameAffiliation
Anup D PatelNationwide Children's Hospital
Anup D PatelThe Ohio State University College of Medicine
Kristy LeeSteve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital
Kristy LeeThe Ohio State University College of Medicine
Peter WhiteSteve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital
Peter WhiteThe Ohio State University College of Medicine
Daniel C KoboldtSteve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University College of Medicine
Richard K WilsonSteve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital
Richard K WilsonThe Ohio State University College of Medicine
Richard K WilsonSteve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital
Richard K WilsonThe Ohio State University College of Medicine
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