Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion> ?p ?o ?g. }
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- NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion type Assertion NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_head.
- NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion description "[The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote cystathionine beta synthase-deficient homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, skeletal abnormalities, thromboembolic events, and sometimes mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_provenance.
- NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion evidence source_evidence_literature NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_provenance.
- NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion SIO_000772 22876397 NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_provenance.
- NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion wasDerivedFrom befree-20140225 NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_provenance.
- NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_assertion wasGeneratedBy ECO_0000203 NP758784.RABDkPTMy0IasO1Q2bMrKqsttqB2B0oyU31Qtnzm2OdwA130_provenance.