Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.E20fs
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LIPA

NM_000235.4:p.E20fs

Associated Papers

Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.

Zhang JH et al.

Digestive Diseases and Sciences, 2024

Novel mutation in a patient with cholesterol ester storage disease.

Lin P et al.

Case Reports in Genetics, 2015

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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."