Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.D3Splc
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GYG1

NM_004130.4:p.D3Splc

Associated Papers

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Visuttijai K et al.

Neuropathology and Applied Neurobiology, 2024

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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."