Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion> ?p ?o ?g. }
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- NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion type Assertion NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_head.
- NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_provenance.
- NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion evidence source_evidence_literature NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_provenance.
- NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion SIO_000772 11214910 NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_provenance.
- NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion wasDerivedFrom befree-20150227 NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_provenance.
- NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_assertion wasGeneratedBy ECO_0000203 NP433907.RAe_HMMRpZyBudaNxzWA6KSJtXQexE656-GwwKorndIYM130_provenance.