Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.V108delFs
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PLPBP

NM_007198.4:p.V108delFs

Associated Papers

Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.

Kalser J et al.

Neuropediatrics, 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."