G6PC3 mutants

Stable Identifier
R-HSA-3282874
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
22050868 Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

Boztug, K, Rosenberg, PS, Dorda, M, Banka, S, Moulton, T, Curtin, J, Rezaei, N, Corns, J, Innis, JW, Avci, Z, Tran, HC, Pellier, I, Pierani, P, Fruge, R, Parvaneh, N, Mamishi, S, Mody, R, Darbyshire, P, Motwani, J, Murray, J, Buchanan, GR, Newman, WG, Alter, BP, Boxer, LA, Donadieu, J, Welte, K, Klein, C

J. Pediatr. 2012
Participants
Disease
Name Identifier Synonyms
severe congenital neutropenia 0050590