Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G357V
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ARSA

NM_000487.6:p.G357V

Associated Papers

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.

Fathi M et al.

Biochemical Genetics, 2026

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Trinidad M et al.

Genome Biology, 2023

37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.

Beerepoot S et al.

Neurogenetics, 2020

Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.

Golchin N et al.

Genetics and Molecular Biology, 0

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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."