Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_assertion> ?p ?o ?g. }
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- NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_assertion type Assertion NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_head.
- NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_assertion wasGeneratedBy ECO_0000203 NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_provenance.
- NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_assertion wasDerivedFrom befree-2016 NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_provenance.
- NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_assertion SIO_000772 17056637 NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_provenance.
- NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_assertion evidence source_evidence_literature NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_provenance.
- NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_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." NP575619.RAQtwvM7bpelfbQMiSTNTjFMRwKIwTrnYXUzFfP_6UQko130_provenance.