Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_assertion description "[Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_assertion evidence source_evidence_curated NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_assertion SIO_000772 7920660 NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_assertion wasDerivedFrom ctd_human-20130708 NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_assertion wasGeneratedBy ECO_0000218 NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP21303.RAaC2LULBzv3asS0zp6FQcrV4XA-sxn1yNO47pFoFLcAM130_provenance.