Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.Q377*
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PCYT2

NM_002861.5:p.Q377*

Associated Papers

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

Dash A et al.

Journal of Movement Disorders, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG82

Genetic diseases of the Kennedy pathways for membrane synthesis.

Tavasoli M et al.

The Journal of Biological Chemistry, 2020

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Vaz FM et al.

Brain : a Journal of Neurology, 2019

31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
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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."