Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.E484fs
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SPG7

NM_003119.4:p.E484fs

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D et al.

Journal of the Neurological Sciences, 2017

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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