Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.V39insFs
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NPC2

NM_006432.5:p.V39insFs

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
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