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- source_evidence_literature type ECO_0000212 NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_assertion description "[Here, we report mutation analysis in three new patients with liver phosphorylase kinase deficiency and recurrent hypoglycemia, liver fibrosis, and lack of glucagon response but no overt cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_assertion evidence source_evidence_literature NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_assertion SIO_000772 12930917 NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_assertion wasDerivedFrom befree-2016 NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_assertion wasGeneratedBy ECO_0000203 NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.
- befree-2016 importedOn "2016-02-19" NP406259.RAQH_YodGo3vybI6MEc0ZOCUuTS27XuhOz4DR69CF52go130_provenance.