Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_assertion description "[The most frequent cause for an abnormal result during screening of newborn infants for galactosemia is double heterozygosity for Duarte variant and galactosemia, in which galactose-1-phosphate uridyl transferase activity is reduced to approximately 17% of normal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_assertion evidence source_evidence_literature NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_assertion SIO_000772 7069531 NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_assertion wasDerivedFrom befree-2016 NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_assertion wasGeneratedBy ECO_0000203 NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1307585.RAjlDLJy1EnuBIi_qDLZrblI6EOrP1zaRURv-VPknNzCA130_provenance.