Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.M293V
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LIPA

NM_000235.4:p.M293V

Associated Papers

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Mendes C et al.

Molecular Genetics and Metabolism Reports, 2024

Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Yang Z et al.

Nature Communications, 2020

32985499 (PubMed )
Supplement: 41467_2020_18702_MOESM5_ESM.xlsx › Sheet1

Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.

Del Angel G et al.

Human Mutation, 2019

31180157 (PubMed )
Supplement: HUMU-40-2007-s001.xlsx › Supplementary_Table_1
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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."