Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_assertion> ?p ?o ?g. }
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- NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_assertion type Assertion NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_head.
- NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_assertion wasGeneratedBy ECO_0000203 NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_provenance.
- NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_assertion wasDerivedFrom befree-20140225 NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_provenance.
- NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_assertion SIO_000772 16092045 NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_provenance.
- NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_assertion evidence source_evidence_literature NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_provenance.
- NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_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." NP207020.RAmWd4XOH5GFYpHEwKzs-QWU9hVN3jlbx57be1yOIbgIs130_provenance.