Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_assertion description "[There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_assertion evidence source_evidence_literature NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_assertion SIO_000772 20340139 NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_assertion wasDerivedFrom befree-20150227 NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_assertion wasGeneratedBy ECO_0000203 NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP940676.RAOrlgGzKKWHHW4CRGEiCD4RB8C-afQkfC9xzEic9VRJ4130_provenance.