Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G101D
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ARSA

NM_000487.6:p.G101D

Associated Papers

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2026

41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data

Gallbladder cancer with ascites in a child with metachromatic leukodystrophy.

Koshu K et al.

Brain & Development, 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."