Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion description "[A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion evidence source_evidence_curated NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion SIO_000772 8444874 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion wasDerivedFrom ctd_human-2016 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion wasGeneratedBy ECO_0000218 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.