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Paper Details

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
bioRxiv
1
2023
937, Cerebrocostomandibular Syndrome, NDD, NDDs, Neurodevelopmental disorders, PE regions, PEs, Poison exon, RNA, associated gene, codon, congenital conditions, epilepsies, exons, humans, mice, mouse, poison exons, rare, sodium, sodium voltage-gated channel alpha subunit family
Author NameAffiliation
Susan M HiattHudsonAlpha Institute for Biotechnology
Kevin M BowlingWashington University School of Medicine
Whitley V KelleyHudsonAlpha Institute for Biotechnology
Anna C E HurstUniversity of Alabama in Birmingham
Elizabeth Martina BebinUniversity of Alabama at Birmingham
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai. New York
Eimear E KennyIcahn School of Medicine at Mount Sinai
Eimear E KennyIcahn School of Medicine at Mount Sinai
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai. New York
Eimear E KennyIcahn School of Medicine at Mount Sinai
Eimear E KennyIcahn School of Medicine at Mount Sinai
Gregory M CooperHudsonAlpha Institute for Biotechnology
Gregory M CooperHudsonAlpha Institute for Biotechnology
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