Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_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." NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_assertion evidence source_evidence_literature NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_assertion SIO_000772 18435799 NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_assertion wasDerivedFrom befree-20140225 NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_assertion wasGeneratedBy ECO_0000203 NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP194711.RAyba52iuK6-KevodJAApigFTzNP4QBl85cd8GC3-7-Sk130_provenance.