Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R99fs
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ARSA

NM_000487.6:p.R99fs

Associated Papers

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.

Fathi M et al.

Biochemical Genetics, 2026

Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.

Mahdieh N et al.

Clinical Neurology and Neurosurgery, 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."