Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.L108H
Back to variants list

LIPA

NM_000235.4:p.L108H

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

TRIM7 inhibits enterovirus replication and promotes emergence of a viral variant with increased pathogenicity.

Fan W et al.

Cell, 2021

[Lysosomal acid lipase deficiency. Overview of Czech patients].

Elleder M et al.

Casopis Lekaru Ceskych, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."