Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion> ?p ?o ?g. }
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- NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion type Assertion NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_head.
- NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion description "[High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_provenance.
- NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion evidence source_evidence_literature NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_provenance.
- NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion SIO_000772 21846663 NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_provenance.
- NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion wasDerivedFrom befree-2016 NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_provenance.
- NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_assertion wasGeneratedBy ECO_0000203 NP917406.RARheWmncbCwMnKlFRC6KrZ-UlgyJe72KubQaoNXbshO0130_provenance.