Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.G577D
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SPG7

NM_003119.4:p.G577D

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations.

Rizzo G et al.

Parkinsonism & Related Disorders, 2020

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

Coarelli G et al.

Neurology, 2019

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA et al.

Clinical Genetics, 2011

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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."