Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion description "[Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion evidence source_evidence_literature NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion SIO_000772 16813530 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion wasDerivedFrom befree-2016 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion wasGeneratedBy ECO_0000203 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- befree-2016 importedOn "2016-02-19" NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.