Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.L526P
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PYGL

NM_002863.5:p.L526P

Associated Papers

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.

Moghimi P et al.

Biochemical Genetics, 2025

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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."