Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.
- NP162922.RAH6JGVCDI7V0b_NzwgxDCqp1WPUIMUWjbD4_WnC3o9wU130_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." NP162922.RAH6JGVCDI7V0b_NzwgxDCqp1WPUIMUWjbD4_WnC3o9wU130_provenance.
- NP163201.RAOYK81OC31uaamlVxMgqw2DaozCTxNdtIwLySGgjCZb0130_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." NP163201.RAOYK81OC31uaamlVxMgqw2DaozCTxNdtIwLySGgjCZb0130_provenance.
- NP575620.RACcnThudjY8hHHoFRT85ozQ-lCOJRtVqTTeMD5dBpSgY130_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." NP575620.RACcnThudjY8hHHoFRT85ozQ-lCOJRtVqTTeMD5dBpSgY130_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.
- NP948957.RASLGjaUvOwqwF9u46GVjRvEiU3DqzSeGKIlSpbl5oI6Y130_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." NP948957.RASLGjaUvOwqwF9u46GVjRvEiU3DqzSeGKIlSpbl5oI6Y130_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.
- 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." provenance.
- 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." provenance.
- NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_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." NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_provenance.
- NP575618.RAiZT-qFY3OhI7A_M3x2l8LprFNAn0zmzR3tOnbrwR-V4130_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." NP575618.RAiZT-qFY3OhI7A_M3x2l8LprFNAn0zmzR3tOnbrwR-V4130_provenance.