Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.R40*
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SPG21

NM_016630.7:p.R40*

Associated Papers

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

Amprosi M et al.

Journal of Neurology, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG21

Mast Syndrome Outside the Amish Community: SPG21 in Europe.

Amprosi M et al.

Frontiers in Neurology, 2021

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G et al.

Brain : a Journal of Neurology, 2008

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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."