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Paper Details

Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant.
Cold Spring Harb Mol Case Stud
2
2020
ATP7B, ATP7B gene, NM_000053, Wilson disease, autosomal recessive disorder, canonical splice site, coding exons, copper, copper-transporting ATPases, deep intronic, exons 6-7, intronic variant, putative splicing enhancer element, splice junctions
Author NameAffiliation
Daniel C KoboldtThe Ohio State University
Daniel C KoboldtInstitute for Genomic Medicine at Nationwide Children's Hospital
Bimal P ChaudhariThe Ohio State University
Bimal P ChaudhariInstitute for Genomic Medicine at Nationwide Children's Hospital
Bimal P ChaudhariNationwide Children's Hospital
Bimal P ChaudhariNationwide Children's Hospital
Tracy A BedrosianInstitute for Genomic Medicine at Nationwide Children's Hospital
Peter WhiteThe Ohio State University
Peter WhiteNationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonNationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonNationwide Children's Hospital
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