Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion> ?p ?o ?g. }
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- NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion type Assertion NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_head.
- NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion description "[Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance.
- NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion evidence source_evidence_literature NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance.
- NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion SIO_000772 7493032 NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance.
- NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion wasDerivedFrom befree-20140225 NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance.
- NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion wasGeneratedBy ECO_0000203 NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance.