Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.I75R
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PNPO

NM_018129.4:p.I75R

Associated Papers

Hypoglycorrhachia: From Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) to Pyridox(am)ine-5'-Phosphate Oxidase (PNPO) Deficiency: A Fifteen-Year Diagnostic Journey Redefined by Genomic Insights.

Gowda VK et al.

Indian Journal of Pediatrics, 2026

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