Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.W195fs
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ARSA

NM_000487.6:p.W195fs

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

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

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Cesani M et al.

Human Mutation, 2016

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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."