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- source_evidence_curated type ECO_0000205 NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_assertion wasGeneratedBy ECO_0000218 NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_assertion wasDerivedFrom ctd_human-2016 NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_assertion SIO_000772 17632512 NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_assertion evidence source_evidence_curated NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.
- NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_assertion description "[Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20208.RA3I9ID4Q03DF1ESQ_Ve51LBsMd4ivpq-le18xTcHGofg130_provenance.