Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_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." NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_assertion evidence source_evidence_literature NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_assertion SIO_000772 19806373 NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_assertion wasDerivedFrom befree-2016 NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_assertion wasGeneratedBy ECO_0000203 NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP767579.RAiWKThn6_42K3irc-nIt-k_q_pY3_y63dTX3AMvmaUJQ130_provenance.