Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion> ?p ?o ?g. }
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- NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion type Assertion NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_head.
- NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion description "[A couple who were first cousins had three children: an older son with Bloom syndrome (BLS) and homozygous lecithin-cholesterol acyltransferase (LCAT) deficiency; the second child (a son) and the parents are LCAT deficiency and the youngest child (a daughter), is homozygous for LCAT deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_provenance.
- NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion evidence source_evidence_literature NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_provenance.
- NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion SIO_000772 6859101 NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_provenance.
- NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion wasDerivedFrom befree-2016 NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_provenance.
- NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_assertion wasGeneratedBy ECO_0000203 NP1307124.RAOOU-eH6sfqCzGDKRZ9T-Dfo1F9tLTuPbiujjKD7hbyQ130_provenance.