Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1478H
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SPG11

NM_025137.4:p.Q1478H

Associated Papers

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M et al.

Journal of Neurology, 2026

Autonomic profiling in SPG11 hereditary spastic paraplegia.

Amprosi M et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2025

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.

Regensburger M et al.

Nutrients, 2022

Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.

Utz KS et al.

Orphanet Journal of Rare Diseases, 2022

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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."