Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_assertion> ?p ?o ?g. }
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- NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_assertion type Assertion NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_head.
- NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_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." NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_provenance.
- NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_assertion evidence source_evidence_curated NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_provenance.
- NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_assertion SIO_000772 10323730 NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_provenance.
- NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_assertion wasDerivedFrom uniprot-2016 NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_provenance.
- NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_assertion wasGeneratedBy ECO_0000218 NP175.RAxPAM3OE0Ai6Gw0izy5cdMN2bIVi2vUwXbUlotRP6fu8130_provenance.