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- NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_assertion type Assertion NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_head.
- NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_assertion wasGeneratedBy ECO_0000203 NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_provenance.
- NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_assertion wasDerivedFrom befree-20150227 NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_provenance.
- NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_assertion SIO_000772 17056637 NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_provenance.
- NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_assertion evidence source_evidence_literature NP948954.RAn7MJEtPnHB-5RmdRf7fXR4JHYMDSvy3F92K5V5DUYj4130_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.