Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion> ?p ?o ?g. }
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- NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion type Assertion NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_head.
- NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion description "[75 different LDL receptor mutations in 645 children with heterozygous familial hypercholesterolemia; in these children, null alleles were clearly associated with more elevated LDL cholesterol levels compared to receptor-defective mutations ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_provenance.
- NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion evidence source_evidence_literature NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_provenance.
- NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion SIO_000772 15823280 NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_provenance.
- NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion wasDerivedFrom lhgdn-20090331 NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_provenance.
- NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_assertion wasGeneratedBy ECO_0000203 NP197938.RA54vgKB1L3yFs-sXGd_gI916DXpKGffYLzpNAxW7GQAM130_provenance.