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- source_evidence_literature type ECO_0000212 NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_assertion description "[A novel missense variant, c.428G>A (p.G143E), in the gap junction protein-alpha 3 gene (GJA3) was identified in three patients of the family but unidentified in three family members without lens opacity and 100 normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_assertion evidence source_evidence_literature NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_assertion SIO_000772 25635993 NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_assertion wasDerivedFrom befree-2016 NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_assertion wasGeneratedBy ECO_0000203 NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1259586.RAsYAlerM5ftlehdkEmvCeT8JSBk92ae0rkfk9HNKuXUs130_provenance.