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- source_evidence_literature type ECO_0000212 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion description "[We identified one heterozygous 310-kb deletion of the PAX6 enhancer region in one patient showing isolated GH deficiency (IGHD), cleft palate, and optic disc cupping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion evidence source_evidence_literature NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion SIO_000772 25342853 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion wasDerivedFrom befree-2016 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion wasGeneratedBy ECO_0000203 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.