Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.A658T
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SPG7

NM_003119.4:p.A658T

Associated Papers

Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.

Yigit ZM et al.

Neurogenetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.

Akdal G et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2021

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G et al.

Neurology, 2019

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini C et al.

European Journal of Neurology, 2019

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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."