Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.E178delFs
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PPT1

NM_000310.4:p.E178delFs

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

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Sheth J et al.

Bmc Neurology, 2018

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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."