Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.I242T
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PLPBP

NM_007198.4:p.I242T

Associated Papers

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.

Johannsen J et al.

Journal of Pediatric Genetics, 2019

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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."