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- source_evidence_curated type ECO_0000205 NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_assertion wasGeneratedBy ECO_0000218 NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_assertion wasDerivedFrom uniprot-20130724 NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_assertion SIO_000772 10978268 NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_assertion evidence source_evidence_curated NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_assertion description "[Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.