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- source_evidence_literature type ECO_0000212 NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_assertion description "[Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_assertion evidence source_evidence_literature NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_assertion SIO_000772 23273570 NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_assertion wasDerivedFrom befree-2016 NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_assertion wasGeneratedBy ECO_0000203 NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1039186.RA3cHDmgTUorlpxJ99ZGYKzuKwhYKteBwxMG_P-zHV7mM130_provenance.