Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_assertion description "[Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_assertion evidence source_evidence_curated NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_assertion SIO_000772 16892088 NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_assertion wasDerivedFrom ctd_human-20150221 NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_assertion wasGeneratedBy ECO_0000218 NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP5391.RAIpXfe6yemX3NbHLYBa1XaxCojcw_fQCZsn8jhDyhIoY130_provenance.