Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.I407V
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PYGL

NM_002863.5:p.I407V

Associated Papers

Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Luo X et al.

Human Mutation, 2022

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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."