Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.L695P
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SPG7

NM_003119.4:p.L695P

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

Genetics of primary lateral sclerosis.

Silani V et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

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

Coarelli G et al.

Neurology, 2019

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

Hewamadduma CA et al.

Neurology. Genetics, 2018

Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

Yang Y et al.

Neurology. Genetics, 2016

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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."