Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion> ?p ?o ?g. }
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- NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion type Assertion NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_head.
- NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion description "[Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_provenance.
- NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion evidence source_evidence_literature NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_provenance.
- NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion SIO_000772 9809815 NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_provenance.
- NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion wasDerivedFrom befree-2016 NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_provenance.
- NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_assertion wasGeneratedBy ECO_0000203 NP1407787.RAQT-4WBA7HEZFxQQQ73mIGZhAaYZdWsEHTZPov3WXShU130_provenance.