Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_assertion> ?p ?o ?g. }
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- NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_assertion type Assertion NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_head.
- NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_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." NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_provenance.
- NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_assertion evidence source_evidence_literature NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_provenance.
- NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_assertion SIO_000772 10323730 NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_provenance.
- NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_assertion wasDerivedFrom befree-2016 NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_provenance.
- NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_assertion wasGeneratedBy ECO_0000203 NP252440.RA-SFUBxa3DDNuKMX3NfK5j45l8A3tJp5pnQx3CtMDONw130_provenance.