Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R145*
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ARSA

NM_000487.6:p.R145*

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

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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