Associated Papers
Whole exome sequencing of rare aggressive breast cancer histologies.
Dieci MV et al.
Breast Cancer Research and Treatment, 2016
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Burwinkel B et al.
American Journal of Human Genetics, 2005
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