Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_assertion description "[Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_assertion evidence source_evidence_curated NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_assertion SIO_000772 18830268 NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_assertion wasDerivedFrom uniprot-2016 NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_assertion wasGeneratedBy ECO_0000218 NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5523.RAUWbpgxmXxONv-8AljmLNUzrYPzhld9-BnSUX_tS6evg130_provenance.