Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L341_A345del0
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SLC2A1

NM_006516.4:p.L341_A345del0

Associated Papers

Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review.

Furia A et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2023

Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.

Willemsen MA

Neuropediatrics, 2017

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

Weber YG et al.

The Journal of Clinical Investigation, 2008

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