Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion> ?p ?o ?g. }
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- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion type Assertion NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_head.
- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion description "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_provenance.
- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion evidence source_evidence_literature NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_provenance.
- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion SIO_000772 19839041 NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_provenance.
- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion wasDerivedFrom befree-20140225 NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_provenance.
- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion wasGeneratedBy ECO_0000203 NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_provenance.