Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_assertion description "[X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_assertion evidence source_evidence_curated NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_assertion SIO_000772 7920659 NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_assertion wasDerivedFrom ctd_human-20150221 NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_assertion wasGeneratedBy ECO_0000218 NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP20667.RAx7KdBqTay0KSx4m6jZwNUtZM3_8U_paYny-g46SymA4130_provenance.