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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCYT2

Variant:p.D303delFs

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PCYT2

NM_002861.5:p.D303delFs

hg38:chr17:81905443 TC>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 )

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )

Supplement: CNS-31-e70260-s001.xlsx › SPG82

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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."