Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.T361fs
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GYS2

NM_021957.4:p.T361fs

Associated Papers

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Arko JJ et al.

The Journal of International Medical Research, 2020

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.

Hacıhamdioğlu B et al.

The Turkish Journal of Pediatrics, 2018

Hyperammonemia associated with glycogen storage disease type I.

Tunçer M et al.

The Turkish Journal of Pediatrics, 0

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