Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_assertion description "[Our findings in the largest reported cohort to date significantly extend the range of reported manifestations associated with PIGV mutations and demonstrate that the severe end of the clinical spectrum presents as a multiple congenital malformation syndrome with a high frequency of Hirschsprung disease, vesicoureteral, and renal anomalies as well as anorectal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_assertion evidence source_evidence_literature NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_assertion SIO_000772 24129430 NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_assertion wasDerivedFrom befree-20150227 NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_assertion wasGeneratedBy ECO_0000203 NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP919852.RATW8FEtRTgPBlIJLM6Uiw9ky_aFbPdtdtobLSksUk8Nc130_provenance.