Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_assertion description "[Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_assertion evidence source_evidence_literature NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_assertion SIO_000772 24259184 NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_assertion wasDerivedFrom befree-2016 NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_assertion wasGeneratedBy ECO_0000203 NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1130038.RAXDCEuNj5wyRv3be17PmfqqHtN0_WJMj6RwRTSYUYsXo130_provenance.