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- source_evidence_literature type ECO_0000212 NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_assertion description "[In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_assertion evidence source_evidence_literature NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_assertion SIO_000772 20659440 NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_assertion wasDerivedFrom befree-2016 NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_assertion wasGeneratedBy ECO_0000203 NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.
- befree-2016 importedOn "2016-02-19" NP828247.RAzyDpn0c-xG4c6puPNtd54_DoBcxyoa84tuFNtpvIJWk130_provenance.