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- source_evidence_literature type ECO_0000212 NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.