Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion> ?p ?o ?g. }
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- NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion type Assertion NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_head.
- NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion description "[De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_provenance.
- NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion evidence source_evidence_literature NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_provenance.
- NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion SIO_000772 24255920 NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_provenance.
- NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion wasDerivedFrom befree-2016 NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_provenance.
- NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_assertion wasGeneratedBy ECO_0000203 NP1129848.RA6Pj7sNp5aOwF53Srym5jHddp8sILC25mAeltcnLWgWY130_provenance.