Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.T614I
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SPAST

NM_014946.4:p.T614I

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.

Qureshi HM et al.

Cerebral Cortex (new York, N.y. : 1991), 2023

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Rossi S et al.

Neurology. Genetics, 2022

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.

Zhu Z et al.

Parkinsonism & Related Disorders, 2019

Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.

Fei QZ et al.

European Journal of Neurology, 2011

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

Orlacchio A et al.

Neurology, 2004

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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."