Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.D124fs
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PLPBP

NM_007198.4:p.D124fs

Associated Papers

A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

Pal M et al.

Jimd Reports, 2021

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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."