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- source_evidence_literature type ECO_0000212 NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_assertion wasGeneratedBy ECO_0000203 NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_assertion wasDerivedFrom befree-20150227 NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_assertion SIO_000772 20187763 NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_assertion evidence source_evidence_literature NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.
- NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_assertion description "[Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe), and production of the phenylketonuria disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP606454.RAXWu3MW7gkk9VseAmarhoz-NRxsW7hdCfvQyl_1gFmEY130_provenance.