Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion> ?p ?o ?g. }
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- NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion type Assertion NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_head.
- NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion description "[Although the overall frequency of mutations in FOXG1 in females with severe mental retardation and microcephaly appears to be low (1.5%), our findings suggest the requirement to investigate both point mutations and gene dosage in the FOXG1 gene in patients with severe encephalopathy with microcephaly and some Rett-like features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_provenance.
- NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion evidence source_evidence_literature NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_provenance.
- NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion SIO_000772 19806373 NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_provenance.
- NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion wasDerivedFrom befree-20150227 NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_provenance.
- NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_assertion wasGeneratedBy ECO_0000203 NP404342.RAY536G_xrPKlYcDlWxUIvm774JLfag8CtzFSvtEO8rOE130_provenance.