Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.D175fs
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PCYT2

NM_002861.5:p.D175fs

Associated Papers

Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations.

Dash A et al.

Journal of Movement Disorders, 2025

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.

Leonardis L et al.

Neurology. Genetics, 2022

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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."