Varaico: Literature-Extracted Genetic Variants

Gene:SPTSSA
Variant:p.P57_Q58delFs
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SPTSSA

NM_138288.4:p.P57_Q58delFs

Associated Papers

Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

Duzenli T et al.

Clinical Genetics, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG90

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Srivastava S et al.

Brain : a Journal of Neurology, 2023

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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."