Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion> ?p ?o ?g. }
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- NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_assertion type Assertion NP741476.RAdAdDxiJB4Kf2I5Jyz0NczlZ1NHrWxBGkvZhdDMzHXwk130_head.
- 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.