Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.R816*
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PYGL

NM_002863.5:p.R816*

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

Glycogen storage disease type VI: clinical course and molecular background.

Aeppli TR et al.

European Journal of Pediatrics, 2020

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

Hoogeveen IJ et al.

Jimd Reports, 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."