Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1422*
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SPG11

NM_025137.4:p.Q1422*

Associated Papers

Autonomic profiling in SPG11 hereditary spastic paraplegia.

Amprosi M et al.

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

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Faber I et al.

Neuroimage. Clinical, 2018

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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."