Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion> ?p ?o ?g. }
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- NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion type Assertion NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_head.
- NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion description "[We propose that the single base deletion in the apo E gene which is the cause of a non-functional 'null' allele in addition to a probably dominant apo E1 (Gly127-->Asp, Arg158-->Cys) variant of late or incomplete penetrance are the primary genetic defects in this kindred leading to severe dysbetalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_provenance.
- NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion evidence source_evidence_literature NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_provenance.
- NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion SIO_000772 1360898 NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_provenance.
- NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion wasDerivedFrom befree-2016 NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_provenance.
- NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_assertion wasGeneratedBy ECO_0000203 NP411636.RAC4kp7iPTq9sqMWpygeknEYL9gx3WUz_HfRaMr-BFdDY130_provenance.