Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion> ?p ?o ?g. }
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- NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion type Assertion NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_head.
- NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion description "[Analysis of the CYP21A2 gene in the patients with congenital adrenal hyperplasia from the Republic of Bashkortostan revealed seven different mutations, including deletion/conversion of the delA2orLGC gene, R356W, 12splice, I172N, Q318X, V281L, and P30L.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_provenance.
- NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion evidence source_evidence_literature NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_provenance.
- NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion SIO_000772 19062540 NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_provenance.
- NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion wasDerivedFrom gad-20130706 NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_provenance.
- NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_assertion wasGeneratedBy ECO_0000203 NP45852.RAXIVKOXxHHzdPQG-Hp57HQz2jue7DPIiC_0V__DwnhB4130_provenance.