Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion description "[The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion evidence source_evidence_literature NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion SIO_000772 12110949 NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion wasDerivedFrom befree-20140225 NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion wasGeneratedBy ECO_0000203 NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance.