Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.T1216_R1217delFs
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PHKA2

NM_000292.3:p.T1216_R1217delFs

Associated Papers

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

Brown LM et al.

Journal of Inherited Metabolic Disease, 2015

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

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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."