Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_assertion description "[Given recent case reports of haploinsufficiency of SF1 affecting testicular function in humans, we aimed to identify SF1 mutations in a cohort of individuals with a phenotypic spectrum of 46,XY gonadal dysgenesis/impaired androgenization (now termed 46,XY disorders of sex development) with normal adrenal function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_assertion evidence source_evidence_literature NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_assertion SIO_000772 17200175 NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_assertion wasDerivedFrom befree-20140225 NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_assertion wasGeneratedBy ECO_0000203 NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP745398.RABSX4Z8jpal9gE6zHl7lVyt-xxYNwIk5WYuuRbecv9v4130_provenance.