Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.V70I
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PLPBP

NM_007198.4:p.V70I

Associated Papers

Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.

Alsini H et al.

Molecular Genetics and Metabolism, 2026

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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."