Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_assertion> ?p ?o ?g. }
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- NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_assertion type Assertion NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_head.
- NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_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." NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_provenance.
- NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_assertion evidence source_evidence_literature NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_provenance.
- NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_assertion SIO_000772 19806373 NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_provenance.
- NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_assertion wasDerivedFrom befree-20140225 NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_provenance.
- NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_assertion wasGeneratedBy ECO_0000203 NP672136.RA6pmkRwy8WE0diFYXt7TGWgCFIhp7dc9BaJF2EpLq3j0130_provenance.