Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.G577S
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SPG7

NM_003119.4:p.G577S

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

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations.

Rizzo G et al.

Parkinsonism & Related Disorders, 2020

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

Hewamadduma CA et al.

Neurology. Genetics, 2018

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL et al.

Jama Neurology, 2014

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Wilkinson PA et al.

Brain : a Journal of Neurology, 2004

[Recent progress in genetic study of hereditary spastic paraplegia].

Takano H et al.

No to Shinkei = Brain and Nerve, 2003

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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."