Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G419*
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SPAST

NM_014946.4:p.G419*

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

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1

Autonomic dysfunction in hereditary spastic paraplegia type 4.

González-Salazar C et al.

European Journal of Neurology, 2019

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Jacinto-Scudeiro LA et al.

Frontiers in Neurology, 2019

31231294 (PubMed )
Supplement: Table_1.DOCX

Multimodal MRI-based study in patients with SPG4 mutations.

Rezende TJ et al.

Plos One, 2015

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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."