Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.S576W
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SPG7

NM_003119.4:p.S576W

Associated Papers

The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.

Jauregui R et al.

Journal of Personalized Medicine, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.

Wali G et al.

Scientific Reports, 2021

The clinical and radiological profile of primary lateral sclerosis: a population-based study.

Finegan E et al.

Journal of Neurology, 2019

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

Hewamadduma CA et al.

Neurology. Genetics, 2018

An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

Kumar KR et al.

Movement Disorders Clinical Practice, 2015

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar KR et al.

Journal of Neurology, 2013

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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."