Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.K81_R82Splc
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PYGL

NM_002863.5:p.K81_R82Splc

Associated Papers

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

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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."