Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.S661*
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ALDH18A1

NM_001017423.2:p.S661*

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

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Yépez VA et al.

Genome Medicine, 2022

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS et al.

Nature Communications, 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."