Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.H153H
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ARSA

NM_000487.6:p.H153H

Associated Papers

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

Wu THY et al.

Molecular Genetics and Metabolism, 2024

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.

Hong X et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Böhringer J et al.

Human Mutation, 2017

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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."