Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.E852V
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PHKB

NM_000293.3:p.E852V

Associated Papers

Clinical and genetic findings of three patients with chorea-acanthocytosis.

D'Amico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."