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Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients with constitutional mosaic aneuploidy, we identifie...
ORGANISM(S): Homo sapiens (Human) 
2021-04-07 | PXD024682 | Pride
U12-type introns were originally recognized based on their highly conserved non-consensus AT-AC termini1,2, which are spliced by a separate minor spliceosome3,4. Padgett and Krainer groups later showed that terminal dinucleotides do not differentiate U12-type from U2-type introns, as there are U12-t...
ORGANISM(S): Homo sapiens 
2021-04-19 | GSE143392 | GEO
A novel minor spliceosome component required for splicing of AT-AC introns
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