Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_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." NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_assertion evidence source_evidence_curated NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_assertion SIO_000772 17701898 NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_assertion wasDerivedFrom uniprot-20130724 NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_assertion wasGeneratedBy ECO_0000218 NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.