Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_assertion wasGeneratedBy ECO_0000203 NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_assertion wasDerivedFrom befree-20140225 NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_assertion SIO_000772 15383666 NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_assertion evidence source_evidence_literature NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_assertion description "[Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP398751.RA6qgrvUReEqP4ZwlYgQsmFP6qIG3fG0CNrra7KLmGaVg130_provenance.