Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.D299G
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PHKA1

NM_002637.4:p.D299G

Associated Papers

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Burwinkel B et al.

European Journal of Human Genetics : Ejhg, 2003

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

Burwinkel B et al.

Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."