Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P180H
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ARSA

NM_000487.6:p.P180H

Associated Papers

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Trinidad M et al.

Genome Biology, 2023

37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.

Narayanan DL et al.

Journal of Human Genetics, 2019

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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."