Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.R457*
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SPART

NM_015087.5:p.R457*

Associated Papers

Spastic paraplegia with short stature: Think of Troyer syndrome.

Nayan A et al.

Acta Neurologica Belgica, 2025

Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.

Salari M et al.

Neurology. Genetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG20

Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.

Liang H et al.

Annals of the New York Academy of Sciences, 2020

A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome.

Khoshaeen A et al.

Journal of Genetics, 2020

SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

Dardour L et al.

Cold Spring Harbor Molecular Case Studies, 2017

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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."