Varaico: Literature-Extracted Genetic Variants

Gene:PIGO
Variant:p.L378F
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PIGO

NM_032634.4:p.L378F

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.

Gaouzi Z et al.

Plos One, 2025

A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.

Aguech A et al.

Metabolic Brain Disease, 2023

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