Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion> ?p ?o ?g. }
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- NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion type Assertion NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_head.
- NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion description "[Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of oxidative phosphorylation defects classified as pontocerebellar hypoplasia 6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_provenance.
- NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion evidence source_evidence_literature NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_provenance.
- NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion SIO_000772 22569581 NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_provenance.
- NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion wasDerivedFrom befree-20150227 NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_provenance.
- NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_assertion wasGeneratedBy ECO_0000203 NP927399.RAsxNVgvL9oL8-O9PG_k6LMQB7RXWNSCzIXXv8X_Jozwo130_provenance.