Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.I279delins
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ARSA

NM_000487.6:p.I279delins

Associated Papers

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Beerepoot S et al.

Journal of Inherited Metabolic Disease, 2025

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

Beerepoot S et al.

Neurogenetics, 2020

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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."