Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion description "[We have identified compound heterozygous mutations in the gene encoding human PAPS synthase 2 (PAPSS2) in a girl with premature pubarche, hyperandrogenic anovulation, very low DHEAS levels, and increased androgen levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion evidence source_evidence_literature NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion SIO_000772 19474428 NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion wasDerivedFrom befree-2016 NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion wasGeneratedBy ECO_0000203 NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.
- befree-2016 importedOn "2016-02-19" NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_provenance.