Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.D613A
Back to variants list

SPAST

NM_014946.4:p.D613A

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

Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Solowska JM et al.

Brain : a Journal of Neurology, 2015

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

Aulitzky A et al.

Journal of the Neurological Sciences, 2014

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez V et al.

Bmc Neurology, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."