Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_assertion> ?p ?o ?g. }
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- NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_assertion type Assertion NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_head.
- NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_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." NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_provenance.
- NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_assertion evidence source_evidence_literature NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_provenance.
- NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_assertion SIO_000772 17986829 NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_provenance.
- NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_assertion wasDerivedFrom befree-2016 NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_provenance.
- NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_assertion wasGeneratedBy ECO_0000203 NP639144.RAwBJA27Z3iOo8GuSyP2ConsW3D5h7Pdu3vVVbvyrKEQ8130_provenance.