Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R et al.
Bmc Medical Genetics, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.
Park KJ et al.
Annals of Clinical and Laboratory Science, 2011
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
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