Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_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." NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_assertion evidence source_evidence_curated NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_assertion SIO_000772 17701898 NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_assertion wasDerivedFrom uniprot-2016 NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_assertion wasGeneratedBy ECO_0000218 NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5088.RAY9fjSqnZH2PRRCiC2CFtwqsyG5vBNVHMsEOr1rrZUyg130_provenance.