Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.Q234*
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ARSA

NM_000487.6:p.Q234*

Associated Papers

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Musa SA et al.

European Journal of Endocrinology, 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."