Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R301L
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ARSA

NM_000487.6:p.R301L

Associated Papers

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.

Pekgül F et al.

Molecular Genetics and Metabolism Reports, 2020

ARSA gene variants and Parkinson's disease.

Fan Y et al.

Brain : a Journal of Neurology, 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."