Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_assertion description "[Four of nine probands harboured SPG4 mutations, We identified three new SPG4 mutations, all predicting a loss-of-func-tion with apparently important consequences for spastin function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_assertion evidence source_evidence_curated NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_assertion SIO_000772 11985387 NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_assertion wasDerivedFrom uniprot-20130724 NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_assertion wasGeneratedBy ECO_0000218 NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.