Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_assertion> ?p ?o ?g. }
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- NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_assertion type Assertion NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_head.
- NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_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." NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_provenance.
- NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_assertion evidence source_evidence_curated NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_provenance.
- NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_assertion SIO_000772 10090484 NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_provenance.
- NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_assertion wasDerivedFrom uniprot-2016 NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_provenance.
- NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_assertion wasGeneratedBy ECO_0000218 NP62.RATUdjXcAvR-ehUQYuNx9QSt_THVwG2YSmoI39iHUykuI130_provenance.