Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion> ?p ?o ?g. }
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- NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion type Assertion NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_head.
- NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion wasGeneratedBy ECO_0000203 NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_provenance.
- NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion wasDerivedFrom befree-2016 NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_provenance.
- NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion SIO_000772 11708860 NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_provenance.
- NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion evidence source_evidence_literature NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_provenance.
- NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_assertion description "[We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP336418.RAC-itJxP6Fo5JZYBYvRXUzULAaBXGXOGJ9FS448JeBnQ130_provenance.