Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_assertion wasGeneratedBy ECO_0000218 NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_assertion wasDerivedFrom uniprot-20130724 NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_assertion SIO_000772 22344793 NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_assertion evidence source_evidence_curated NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_assertion description "[Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3688.RAOaxUJ_-ya5m_VrAGysmCMagvUAzCaLdK75k-1F_RphM130_provenance.