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- source_evidence_literature type ECO_0000212 NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_assertion description "[Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_assertion evidence source_evidence_literature NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_assertion SIO_000772 25415519 NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_assertion wasDerivedFrom befree-2016 NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_assertion wasGeneratedBy ECO_0000203 NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1239126.RA9CYUK4DLsAj00S7gOr6eVVyL3g8Aft3mzJedeln0_bI130_provenance.