Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.R44H
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PYGL

NM_002863.5:p.R44H

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

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

Lu SQ et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F et al.

Molecular Genetics & Genomic Medicine, 2019

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."