Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.S185fs
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LIPA

NM_000235.4:p.S185fs

Associated Papers

High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.

Eskandari SK et al.

The New England Journal of Medicine, 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."