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- source_evidence_literature type ECO_0000212 NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_assertion description "[A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_assertion evidence source_evidence_literature NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_assertion SIO_000772 22678705 NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_assertion wasDerivedFrom befree-2016 NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_assertion wasGeneratedBy ECO_0000203 NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.
- befree-2016 importedOn "2016-02-19" NP988254.RAgA_nPHaA6syFQ-EgypAwTo0r3AjOZcbplP12b5vB_Gc130_provenance.