Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.S275F
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LIPA

NM_000235.4:p.S275F

Associated Papers

Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.

de Castro Lopez MJ et al.

International Journal of Neonatal Screening, 2025

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.

Cappuccio G et al.

Journal of Inherited Metabolic Disease, 2019

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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."