Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.G243R
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PLPBP

NM_007198.4:p.G243R

Associated Papers

Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.

Gowda VK et al.

Indian Pediatrics, 2025

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."