Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.P749L
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SPG7

NM_003119.4:p.P749L

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

SPG7 mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.

Madhavi K et al.

Clinical Parkinsonism & Related Disorders, 2024

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.

Bogdanova-Mihaylova P et al.

Journal of Neurology, 2021

Spastic paraplegia type 7 associated with a broad clinical phenotype.

O'Donnell LF et al.

Irish Journal of Medical Science, 2020

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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."