Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.L89P
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LIPA

NM_000235.4:p.L89P

Associated Papers

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Bastos KLM et al.

International Journal of Molecular Sciences, 2024

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.

Gürbüz BB et al.

The Turkish Journal of Pediatrics, 2020

Lysosomal acid lipase deficiency in Brazilian children: a case series.

Benevides GN et al.

Jornal De Pediatria, 0

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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."