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- source_evidence_literature type ECO_0000212 NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion description "[In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion evidence source_evidence_literature NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion SIO_000772 10090484 NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion wasDerivedFrom befree-2016 NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_assertion wasGeneratedBy ECO_0000203 NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.
- befree-2016 importedOn "2016-02-19" NP248350.RAbOV71R9ajiSWkZcYEEMo0K9WYRcBH5JhwnyQz4-NVnw130_provenance.