Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion> ?p ?o ?g. }
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- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion type Assertion NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_head.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion description "[Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion evidence source_evidence_curated NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion SIO_000772 10323730 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion wasDerivedFrom uniprot-20130724 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion wasGeneratedBy ECO_0000218 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.