Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P193S
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ARSA

NM_000487.6:p.P193S

Associated Papers

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

Musa SA et al.

European Journal of Endocrinology, 2025

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.

Amr K et al.

Journal of Molecular Neuroscience : Mn, 2021

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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."