Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.L711delFs
Back to variants list

ALDH18A1

NM_002860.4:p.L711delFs

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

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Nozaki F et al.

Brain & Development, 2016

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B et al.

Molecular Genetics and Metabolism, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."