Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion> ?p ?o ?g. }
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- NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion type Assertion NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_head.
- NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion description "[In humans, inactivating mutations in GLUT2 cause Fanconi-Bickel syndrome, which is characterised by hepatomegaly and kidney disease; defects in insulin secretion are rare in adult patients, but GLUT2 mutations cause transient neonatal diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_provenance.
- NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion evidence source_evidence_literature NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_provenance.
- NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion SIO_000772 25421524 NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_provenance.
- NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion wasDerivedFrom befree-2016 NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_provenance.
- NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_assertion wasGeneratedBy ECO_0000203 NP1239632.RAihIdzSKd56sPfyuMpXaiE57zodPn-xOC9t2XaiyZDso130_provenance.