Varaico: Literature-Extracted Genetic Variants

Gene:PIGT
Variant:p.R507W
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PIGT

NM_015937.6:p.R507W

Associated Papers

Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.

Ben Ayed I et al.

Frontiers in Neurology, 2023

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Bayat A et al.

Frontiers in Genetics, 2021

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