Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_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." NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_assertion evidence source_evidence_literature NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_assertion SIO_000772 19806373 NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_assertion wasDerivedFrom befree-20150227 NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_assertion wasGeneratedBy ECO_0000203 NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP404314.RADHhmrzywGgYII0J3Gm8FQImgVgHH-HAKcHSRrxixRTc130_provenance.