Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.A107T
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PLPBP

NM_007198.4:p.A107T

Associated Papers

Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.

Nakamura S et al.

European Journal of Medical Genetics, 2025

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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."