Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.D359Y
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ARSA

NM_000487.6:p.D359Y

Associated Papers

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Jain S et al.

Biorxiv : the Preprint Server for Biology, 2024

38798479 (PubMed )
Supplement: media-2.xlsx › Table_S1_-_activity___pred

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_MOESM3_ESM.xlsx › Table_S3
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