Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion> ?p ?o ?g. }
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- NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion type Assertion NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_head.
- NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion description "[A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_provenance.
- NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion evidence source_evidence_literature NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_provenance.
- NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion SIO_000772 21426321 NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_provenance.
- NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion wasDerivedFrom befree-20140225 NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_provenance.
- NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_assertion wasGeneratedBy ECO_0000203 NP855828.RAMXowHT-fZcytuG2F1BlmpXU3i6E8bGYQEORdmX9BYQA130_provenance.