Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_assertion description "[Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_assertion evidence source_evidence_curated NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_assertion SIO_000772 17701898 NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_assertion wasDerivedFrom uniprot-20150221 NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_assertion wasGeneratedBy ECO_0000218 NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP311.RA6LIDOfY-6D_wOxPuBFhhZ99i6JGO3cNTs7vBbAZv-hU130_provenance.