Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_assertion wasGeneratedBy ECO_0000203 NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_assertion wasDerivedFrom befree-20140225 NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_assertion SIO_000772 14967154 NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_assertion evidence source_evidence_literature NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.
- befree-20140225 importedOn "2014-02-25" NP393127.RAlXJ_vk_1XKIcIwc4Hjq0NnuSifdSJp_p1EUcvL2zc54130_provenance.