Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.D584V
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SPAST

NM_014946.4:p.D584V

Associated Papers

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Choi Y et al.

Yonsei Medical Journal, 2026

41431411 (PubMed )
Supplement: ymj-67-34-s001.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

A Novel SPAST Variant Associated with Isolated Spastic Paraplegia.

Høyer H et al.

Case Reports in Genetics, 2023

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.

Kim TH et al.

Journal of Clinical Neurology (seoul, Korea), 2014

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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."