Reactome: A Curated Pathway Database

NHLRC1 mutants (R-HSA-3797212)

Species Homo sapiens

Additional Information
Compartment cytosol
Components of this entry
Member
Diseases
Name Identifier Synonyms
glycogen storage disease 2747 [glycogenosis]
Literature References
pubMedId Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy Nat. Genet. 2003