Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.E487del1
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SPG7

NM_003119.4:p.E487del1

Associated Papers

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Baviera-Muñoz R et al.

Neurology. Genetics, 2022

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

Hewamadduma CA et al.

Neurology. Genetics, 2018

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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."