Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion description "[A Type A NPD patient of Asian Indian ancestry (proband 1) was homoallelic for a T to A transversion in exon 2 of the ASM gene which predicted a premature stop at codon 261 of the ASM polypeptide (designated L261X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion evidence source_evidence_literature NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion SIO_000772 1618760 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion wasDerivedFrom befree-20140225 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion wasGeneratedBy ECO_0000203 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.