Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion> ?p ?o ?g. }
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- NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion type Assertion NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_head.
- NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion description "[APOPT1 mutations are responsible for infantile or childhood-onset mitochondrial disease, hallmarked by the combination of profound COX deficiency with a distinctive neuroimaging presentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_provenance.
- NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion evidence source_evidence_literature NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_provenance.
- NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion SIO_000772 25175347 NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_provenance.
- NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion wasDerivedFrom befree-20150227 NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_provenance.
- NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_assertion wasGeneratedBy ECO_0000203 NP956004.RA1C9uvVqy97WYDKLssdsfLA8EnMELC9YRBiw3e1NZ3ew130_provenance.