Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.D77del1
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PYGL

NM_002863.5:p.D77del1

Associated Papers

Type-VI glycogen storage disease with compound mutation of the PYGL gene.

Long Q et al.

Asian Journal of Surgery, 2024

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Beyzaei Z et al.

Scientific Reports, 2021

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

Brown LM et al.

Journal of Inherited Metabolic Disease, 2015

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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."