Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion> ?p ?o ?g. }
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- NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion type Assertion NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_head.
- NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_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." NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance.
- NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion evidence source_evidence_curated NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance.
- NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion SIO_000772 10090484 NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance.
- NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion wasDerivedFrom uniprot-20130724 NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance.
- NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_assertion wasGeneratedBy ECO_0000218 NP3755.RAA8RzpC71e3BZda2tk_3Jnd143NEv7pcZZRuw1sfdePA130_provenance.