Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion type Assertion NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_head.
- NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion description "[Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4?) or UCP2 (encoding mitochondrial uncoupling protein 2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_provenance.
- NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion evidence source_evidence_literature NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_provenance.
- NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion SIO_000772 21186003 NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_provenance.
- NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion wasDerivedFrom befree-20140225 NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_provenance.
- NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_assertion wasGeneratedBy ECO_0000203 NP683808.RA-vHkUrI8uxw_3L4SWR9BuDgfC8E9vYgpnIgbKwxq9CI130_provenance.