Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_assertion description "[Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis 1B (ACG-1B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_assertion evidence source_evidence_literature NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_assertion SIO_000772 16642506 NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_assertion wasDerivedFrom befree-20140225 NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_assertion wasGeneratedBy ECO_0000203 NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP583321.RAuJ9n4TkMfLsjSu-fy6nu797gPkcuijfBE65S1j_Dptk130_provenance.