Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion type Assertion NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_head.
- NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion description "[Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_provenance.
- NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion evidence source_evidence_literature NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_provenance.
- NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion SIO_000772 21932603 NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_provenance.
- NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion wasDerivedFrom befree-20140225 NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_provenance.
- NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_assertion wasGeneratedBy ECO_0000203 NP812749.RAGwg4gbTX-xHNvOO1U9PsQcH_TeG5yDpWUak06NDm8_c130_provenance.