Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.Y52N
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SPAST

NM_014946.4:p.Y52N

Associated Papers

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

Yang L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2026

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

Park SH et al.

The Journal of Clinical Investigation, 2010

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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."