Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_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." NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_assertion evidence source_evidence_literature NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_assertion SIO_000772 19167223 NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_assertion wasDerivedFrom befree-2016 NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_assertion wasGeneratedBy ECO_0000203 NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.
- befree-2016 importedOn "2016-02-19" NP716256.RAbNa7aufUSFrAkxdD7apTq4ZDGapmKcpk1sYg18HIktE130_provenance.