Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.Y69_V70Splc
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PLPBP

NM_007198.4:p.Y69_V70Splc

Associated Papers

Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

Heath O et al.

Jimd Reports, 2021

Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.

Jiao X et al.

Developmental Medicine and Child Neurology, 2020

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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."