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Paper Details

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Clin Genet
4
2021
ATP7B, ATP7B exons 14-13-12, ATP7B intronic variant, Hypomorphic alleles, RNA, RNA sequencing, Wilson's disease, aligned, cDNA-cap, exon 13, exon pairs, exon structure, liver tissue, patient, protein-coding transcripts, rare disease
Author NameAffiliation
Bimal P ChaudhariNationwide Children's Hospital
Bimal P ChaudhariThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Bimal P ChaudhariThe Ohio State University College of Medicine
Saranga WijeratneThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Peter WhiteThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Peter WhiteThe Ohio State University College of Medicine
Richard K WilsonThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonThe Ohio State University College of Medicine
Richard K WilsonThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonThe Ohio State University College of Medicine
Daniel C KoboldtThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University College of Medicine
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Release 1.2