Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_assertion> ?p ?o ?g. }
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- NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_assertion type Assertion NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_head.
- NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_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." NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_provenance.
- NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_assertion evidence source_evidence_literature NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_provenance.
- NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_assertion SIO_000772 10749987 NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_provenance.
- NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_assertion wasDerivedFrom befree-20150227 NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_provenance.
- NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_assertion wasGeneratedBy ECO_0000203 NP834269.RAP3p8W9i-HiE7rAGF84o7ZClSA2G2HJiMjdwkOKf-XTY130_provenance.