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- source_evidence_literature type ECO_0000212 NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- befree-2016 importedOn "2016-02-19" NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_assertion wasGeneratedBy ECO_0000203 NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_assertion wasDerivedFrom befree-2016 NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_assertion SIO_000772 16619215 NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_assertion evidence source_evidence_literature NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.
- NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_assertion description "[Using the sequencing approach, we found that the c.43_44insCTG variation in PCSK9, a common in-frame insertion in both African American and Caucasian populations, is associated with the hypocholesterolemia phenotype in three FHBL families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545378.RAA86ah_p65m9Sm36jC7bAWK8SBmFQXDeBAcg_mExtMXw130_provenance.