Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM3
Variant:p.L253F
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PLEKHM3

NM_001080475.3:p.L253F

Associated Papers

Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.

Erro ME et al.

Neurology. Genetics, 2025

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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."