Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion> ?p ?o ?g. }
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- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion type Assertion NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_head.
- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_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." NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion evidence source_evidence_literature NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion SIO_000772 19839041 NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion wasDerivedFrom befree-20150227 NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion wasGeneratedBy ECO_0000203 NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.