Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion> ?p ?o ?g. }
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- NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion type Assertion NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_head.
- NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion description "[Mutations in the TMEM70 gene are the most common cause of nuclear encoded ATP synthase deficiency resulting in a syndrome characterized by neonatal lactic acidosis, cardiomyopathy, and encephalomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_provenance.
- NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion evidence source_evidence_literature NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_provenance.
- NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion SIO_000772 23235116 NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_provenance.
- NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion wasDerivedFrom befree-20140225 NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_provenance.
- NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_assertion wasGeneratedBy ECO_0000203 NP531677.RAXsM8gYl8hRN0IA_AP5gjTP08wTj-b9879wXH66MYKgc130_provenance.