Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.I806L
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PYGL

NM_002863.5:p.I806L

Associated Papers

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs

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

Brown LM et al.

Journal of Inherited Metabolic Disease, 2015

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A et al.

Molecular Genetics and Metabolism, 0

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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."