Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.R576Q
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PYGL

NM_002863.5:p.R576Q

Associated Papers

Clinical and genetic spectrum of GSD type 6 in Korea.

Hahn JW et al.

Orphanet Journal of Rare Diseases, 2023

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

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Vega AI et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."