Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_assertion wasGeneratedBy ECO_0000203 NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_assertion wasDerivedFrom befree-2016 NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_assertion SIO_000772 22387303 NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_assertion evidence source_evidence_literature NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.
- NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_assertion description "[Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP965245.RARNpKfFA2Qw-uVHeZyo9nqHAh3Iomvn6Ynof0YI2s3dQ130_provenance.