Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion> ?p ?o ?g. }
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- NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion type Assertion NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_head.
- NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion description "[In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and 'mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_provenance.
- NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion evidence source_evidence_literature NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_provenance.
- NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion SIO_000772 17986829 NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_provenance.
- NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion wasDerivedFrom befree-20140225 NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_provenance.
- NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_assertion wasGeneratedBy ECO_0000203 NP812830.RAVUR9_MMP2hRXpjZpLhptMT0pHNSMkp88V3lGwj75quo130_provenance.