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- source_evidence_literature type ECO_0000212 NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_assertion description "[Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_assertion evidence source_evidence_literature NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_assertion SIO_000772 16575836 NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_assertion wasDerivedFrom befree-20150227 NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_assertion wasGeneratedBy ECO_0000203 NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228775.RA4hqIDTZaoL_AnutdcFKyksJ6YexUUmbM-1CK3kEqiTI130_provenance.