Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion> ?p ?o ?g. }
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- NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion type Assertion NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_head.
- NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion description "[Mutations in the orphan nuclear receptor DAX1 (NR0B1) cause X-linked adrenal hypoplasia congenital (AHC), a disorder characterized by primary adrenal failure, hypogonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_provenance.
- NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion evidence source_evidence_literature NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_provenance.
- NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion SIO_000772 16275267 NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_provenance.
- NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion wasDerivedFrom befree-20140225 NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_provenance.
- NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_assertion wasGeneratedBy ECO_0000203 NP456318.RANV5zIuiLir9WHOEXwHucRYNxQ8yTIHqNMsCTxIxGWps130_provenance.