Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion> ?p ?o ?g. }
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- NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion type Assertion NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_head.
- 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.