Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.Q115Q
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PYGL

NM_002863.5:p.Q115Q

Associated Papers

Clinical and genetic spectrum of GSD type 6 in Korea.

Hahn JW et al.

Orphanet Journal of Rare Diseases, 2023

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

Grünert SC et al.

Diagnostics (basel, Switzerland), 2021

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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."