Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.S276R
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GLA

NM_000169.3:p.S276R

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

Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.

Dave U et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2025

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Sheth J et al.

Jimd Reports, 2024

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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."