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- source_evidence_literature type ECO_0000212 NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_assertion description "[A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_assertion evidence source_evidence_literature NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_assertion SIO_000772 25729975 NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_assertion wasDerivedFrom befree-2016 NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_assertion wasGeneratedBy ECO_0000203 NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.
- befree-2016 importedOn "2016-02-19" NP1267363.RATnUvhi_BEDxJ7P6_jSqo94X_z2XI_-AmcadqtGU536E130_provenance.