Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.K559fs
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SPG7

NM_003119.4:p.K559fs

Associated Papers

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

Baviera-Muñoz R et al.

Journal of the Neurological Sciences, 2021

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

Coarelli G et al.

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."