Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.A141fs
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LIPA

NM_000235.4:p.A141fs

Associated Papers

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.

Mayanskiy N et al.

Jimd Reports, 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."