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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYS2

Variant:p.W390S

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GYS2

NM_021957.4:p.W390S

hg38:chr12:21560386 C>G

Associated Papers

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Kamenets EA et al.

Jimd Reports, 2020

32395408 (PubMed )

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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."