Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion description "[The absence of minifascicle formation and the absence of a mutation in desert hedgehog homolog in this patient with gonadal dysgenesis and peripheral neuropathy expand the clinical and genetic heterogeneity of this rare entity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion evidence source_evidence_literature NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion SIO_000772 19167223 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion wasDerivedFrom befree-20140225 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion wasGeneratedBy ECO_0000203 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.