Varaico: Literature-Extracted Genetic Variants

Gene:GTF2A1L
Variant:p.N370S
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GTF2A1L

NM_006872.5:p.N370S

Associated Papers

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Taddei TH et al.

Journal of Inherited Metabolic Disease, 2010

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH et al.

American Journal of Hematology, 2009

Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia.

Recalde D et al.

Atherosclerosis, 2002

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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."