Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R450_R451delFs
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SPAST

NM_014946.4:p.R450_R451delFs

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

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C et al.

Neurogenetics, 2012

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Braschinsky M et al.

Bmc Neurology, 2010

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

Orlacchio A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Depienne C et al.

Journal of Medical Genetics, 2006

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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."