Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.D251insFs
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ARSA

NM_000487.6:p.D251insFs

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

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Liaw HR et al.

Orphanet Journal of Rare Diseases, 2015

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.

Shukla P et al.

Journal of the Neurological Sciences, 2011

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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."