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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCYT2

Variant:p.V248E

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PCYT2

NM_001184917.3:p.V248E

hg38:chr17:81906534 A>T

Associated Papers

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

Dash A et al.

Journal of Movement Disorders, 2025

39884309 (PubMed )

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.

Kaiyrzhanov R et al.

Brain : a Journal of Neurology, 2021

33454747 (PubMed )

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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."