Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.V120A
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ALDH18A1

NM_002860.4:p.V120A

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

Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.

Jessen-Howard D et al.

International Journal of Molecular Sciences, 2023

37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.

Haj Salem I et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.

Marelli C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M et al.

Brain : a Journal of Neurology, 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."