Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.C302Y
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ARSA

NM_000487.6:p.C302Y

Associated Papers

Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.

van Niekerk M et al.

European Journal of Human Genetics : Ejhg, 2024

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."