Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion> ?p ?o ?g. }
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- NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion type Assertion NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_head.
- NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion description "[2 novel mutations were identified in the LDLR gene of a family with a member suffering from severe Familial hypercholesterolemia; 1 was W165X, G > A substitution and IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_provenance.
- NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion evidence source_evidence_literature NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_provenance.
- NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion SIO_000772 17935672 NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_provenance.
- NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion wasDerivedFrom lhgdn-20090331 NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_provenance.
- NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_assertion wasGeneratedBy ECO_0000203 NP134774.RAWE63HWM50SkVNEidV5lj_i-6V4DlyHxPqaw_xmbHvhc130_provenance.