Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion type Assertion NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_head.
- NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion wasGeneratedBy ECO_0000203 NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_provenance.
- NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion wasDerivedFrom befree-20140225 NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_provenance.
- NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion SIO_000772 14967154 NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_provenance.
- NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion evidence source_evidence_literature NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_provenance.
- NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547805.RADlz1NqtvY1PgWAcunvkFerVPEKcZ6meesg7Yt1aH8NE130_provenance.