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- source_evidence_literature type ECO_0000212 NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_assertion description "[An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_assertion evidence source_evidence_literature NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_assertion SIO_000772 25481286 NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_assertion wasDerivedFrom befree-2016 NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_assertion wasGeneratedBy ECO_0000203 NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1245435.RAPPYx8keEbRSAqGmkc4bHNSt3tUom-Kt6HjlM28xaAVg130_provenance.