Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.K47*
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SPAST

NM_014946.4:p.K47*

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

FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.

Kang HM et al.

Cell & Bioscience, 2022

35869491 (PubMed )
Supplement: 13578_2022_851_MOESM2_ESM.docx

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.

Allison R et al.

The Journal of Cell Biology, 2017

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Ishiura H et al.

Journal of Human Genetics, 2016

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Ishiura H et al.

Journal of Human Genetics, 2014

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

Dufke C et al.

Neurogenetics, 2012

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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."