Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion type Assertion NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_head.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_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." NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion evidence source_evidence_curated NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion SIO_000772 10323730 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion wasDerivedFrom uniprot-20150221 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion wasGeneratedBy ECO_0000218 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.