Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.G77fs
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LIPA

NM_000235.4:p.G77fs

Associated Papers

Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.

Hernández-Orozco AA et al.

Journal of Clinical Laboratory Analysis, 2024

The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.

Carter A et al.

Journal of Hepatology, 2019

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.

Pullinger CR et al.

Journal of Clinical Lipidology, 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."