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- source_evidence_literature type ECO_0000212 NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_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." NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_assertion evidence source_evidence_literature NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_assertion SIO_000772 20340139 NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_assertion wasDerivedFrom befree-20150227 NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_assertion wasGeneratedBy ECO_0000203 NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.
- befree-20150227 importedOn "2015-02-27" NP761448.RArGM-ud3plWIMs7AVVOsZK0FL1n22FKWp_LHVXeWMV5w130_provenance.