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- source_evidence_literature type ECO_0000212 NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_assertion description "[Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_assertion evidence source_evidence_literature NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_assertion SIO_000772 19557653 NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_assertion wasDerivedFrom befree-20150227 NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_assertion wasGeneratedBy ECO_0000203 NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP697164.RAFM-CVpf3nDwnvgF5s-ratC1OgwMJpl83GPwuvBKDSTo130_provenance.