Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.T550I
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SPAST

NM_014946.4:p.T550I

Associated Papers

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Choi Y et al.

Yonsei Medical Journal, 2026

41431411 (PubMed )
Supplement: ymj-67-34-s001.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Chelban V et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28572275 (PubMed )
Supplement: jnnp-2017-315796supp001.pdf

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

McCorquodale DS et al.

Clinical Genetics, 2011

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

Orlacchio A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

Ivanova N et al.

Clinical 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."