Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.R508H
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SPG7

NM_003119.4:p.R508H

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

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

Hewamadduma CA et al.

Neurology. Genetics, 2018

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )
Supplement: aww111_supplementary_data.zip › brain-2015-01890-File006.pdf
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