Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_assertion wasGeneratedBy ECO_0000203 NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_assertion wasDerivedFrom befree-20140225 NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_assertion SIO_000772 16092045 NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_assertion evidence source_evidence_literature NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_assertion description "[In an extended family (Italy-6) of 46 members with clinical phenotypes of gestational diabetes, MODY, and T2D, a single nucleotide change of CCT to ACT was identified at codon 33 resulting in a Pro to Thr substitution (P33T) in the IPF1 transactivation domain that also contributes to an altered metabolic status in the unaffected NM subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP244331.RApAeQ38hpehzdbM_9gT2X-8zitrqANnaMqxPE0F_hbIc130_provenance.