Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion> ?p ?o ?g. }
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- NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion type Assertion NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_head.
- NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion description "[These data indicate that mutations in SCO2 cause a fatal infantile mitochondrial disorder characterized by hypertrophic cardiomyopathy and encephalopathy, and point to the presence of one or more other genes, perhaps in the copper delivery pathway, in this clinical phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_provenance.
- NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion evidence source_evidence_literature NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_provenance.
- NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion SIO_000772 10749987 NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_provenance.
- NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion wasDerivedFrom befree-20140225 NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_provenance.
- NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_assertion wasGeneratedBy ECO_0000203 NP775369.RAVbIA_S4PUlhBrlDpNGAsKHP7q7l70xwMxWPSHa1XQFk130_provenance.