Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_assertion description "[Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_assertion evidence source_evidence_literature NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_assertion SIO_000772 18435799 NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_assertion wasDerivedFrom befree-20140225 NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_assertion wasGeneratedBy ECO_0000203 NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP495538.RAwzYaUawPx3J1T8P8snVgRFDqO9oHNn6uAumbMC_gzhM130_provenance.