Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.S692T
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SPG7

NM_003119.4:p.S692T

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

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Charif M et al.

Neurology. Genetics, 2020

Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.

Liu Y et al.

European Neurology, 2019

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.

Bhattacharjee S et al.

Neurosciences (riyadh, Saudi Arabia), 2017

Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Salsano E et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.

Warnecke T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T et al.

Neurology, 2007

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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."