Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion description "[Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion evidence source_evidence_curated NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion SIO_000772 22022284 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion wasDerivedFrom uniprot-2016 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion wasGeneratedBy ECO_0000218 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.