Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P194insFs
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ARSA

NM_000487.6:p.P194insFs

Associated Papers

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.

Triono A et al.

Plos One, 2023

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."