Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.H295R
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LIPA

NM_000235.4:p.H295R

Associated Papers

Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.

Zarkasi KA et al.

Diagnostics (basel, Switzerland), 2022

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.

Vijay S et al.

Orphanet Journal of Rare Diseases, 2021

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

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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."