Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion> ?p ?o ?g. }
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- NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion type Assertion NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_head.
- NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion wasGeneratedBy ECO_0000203 NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_provenance.
- NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion wasDerivedFrom befree-20140225 NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_provenance.
- NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion SIO_000772 15772074 NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_provenance.
- NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion evidence source_evidence_literature NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_provenance.
- NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_assertion description "[A missense mutation in the PUS1 gene affecting a highly conserved amino acid has been associated with mitochondrial myopathy and sideroblastic anemia (MLASA), a rare autosomal recessive oxidative phosphorylation disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP904154.RAlAcIAv6_j_hBBILGC1V4uyuCrZvexb8L0ORzEjD_838130_provenance.