Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_assertion description "[Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_assertion evidence source_evidence_literature NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_assertion SIO_000772 19559398 NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_assertion wasDerivedFrom befree-20140225 NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_assertion wasGeneratedBy ECO_0000203 NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.
- befree-20140225 importedOn "2014-02-25" NP514205.RAjEvxBw8RxXTerNosjrzX3C-7ikOlvx3j1z3T4bXhfio130_provenance.