Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion> ?p ?o ?g. }
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- NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion type Assertion NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_head.
- NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion description "[Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding the glucose transporter protein-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_provenance.
- NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion evidence source_evidence_literature NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_provenance.
- NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion SIO_000772 22214819 NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_provenance.
- NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion wasDerivedFrom befree-20140225 NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_provenance.
- NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_assertion wasGeneratedBy ECO_0000203 NP754522.RAFpiZYiIeDoQC3RZ0uoCXAwBNT34fDHZF2A6acJWX6LI130_provenance.