Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion> ?p ?o ?g. }
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- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion type Assertion NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_head.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion wasGeneratedBy ECO_0000203 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion wasDerivedFrom befree-20150227 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion SIO_000772 17056637 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion evidence source_evidence_literature NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion description "[Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.