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- source_evidence_literature type ECO_0000212 NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_assertion description "[Germline mutations of PTPN11 are causative of Noonan syndrome and LEOPARD syndrome in humans in which there are recognized skeletal abnormalities that include growth retardation, spinal curvature and chest malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_assertion evidence source_evidence_literature NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_assertion SIO_000772 25178522 NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_assertion wasDerivedFrom befree-2016 NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_assertion wasGeneratedBy ECO_0000203 NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215965.RA7ZJXUIYJyAldwzcgg9q-2uToHWbX9bnrJC9jVxtHOZ8130_provenance.