Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_assertion> ?p ?o ?g. }
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- NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_assertion type Assertion NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_head.
- NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_assertion wasGeneratedBy ECO_0000203 NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_provenance.
- NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_assertion wasDerivedFrom befree-20140225 NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_provenance.
- NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_assertion SIO_000772 17056637 NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_provenance.
- NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_assertion evidence source_evidence_literature NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_provenance.
- NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_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." NP738716.RAhugjj1mnQSmWhX1yUqDNtJJl_zruQjO-ye93MOX7qdQ130_provenance.