Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.E581K
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ALDH18A1

NM_002860.4:p.E581K

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG9

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Chen YJ et al.

Frontiers in Neurology, 2021

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].

Lin SZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.

Magini P et al.

Annals of Clinical and Translational Neurology, 2019

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

Wei Q et al.

Translational Neurodegeneration, 2019

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

Steenhof M et al.

Neurogenetics, 2018

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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."