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- source_evidence_literature type ECO_0000212 NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_assertion description "[Familial hypercholesterolaemia (FH) is a common autosomal codominant hereditary disease caused by defects in the LDL receptor (LDLR) gene, and one of the most common characteristics of affected subjects is premature coronary heart disease (CHD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_assertion evidence source_evidence_literature NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_assertion SIO_000772 12624133 NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_assertion wasDerivedFrom befree-2016 NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_assertion wasGeneratedBy ECO_0000203 NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.
- befree-2016 importedOn "2016-02-19" NP386160.RA_i4d8VuV2lJOVvBx4iVcC3chSms6KBmK4i8mZe4EjHM130_provenance.