Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.H400Y
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PYGL

NM_002863.5:p.H400Y

Associated Papers

A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.

Liu B et al.

The Journal of Molecular Diagnostics : Jmd, 2020

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A et al.

Molecular Genetics and Metabolism, 2014

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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."