Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.P82S
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FRZB

NM_001463.4:p.P82S

Associated Papers

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Plecko B et al.

Human Mutation, 2007

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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."