Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.L773_G774del2
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SPG7

NM_003119.4:p.L773_G774del2

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

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Alvarez-Mora MI et al.

Genes, 2023

37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

da Graça FF et al.

Cerebellum (london, England), 2022

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini C et al.

European Journal of 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."