Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion> ?p ?o ?g. }
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- NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion type Assertion NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_head.
- NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion description "[Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_provenance.
- NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion evidence source_evidence_literature NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_provenance.
- NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion SIO_000772 16826447 NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_provenance.
- NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion wasDerivedFrom befree-2016 NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_provenance.
- NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_assertion wasGeneratedBy ECO_0000203 NP558778.RAAEOPjeHYHYT_GufpcebgaX1l1IDDjBX_czM8Qcd3JgI130_provenance.