Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.E444Q
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SORT1

NM_002959.7:p.E444Q

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a).

Clark JR et al.

Journal of Lipid Research, 2022

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.

Tveten K et al.

Atherosclerosis, 2012

Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.

Beaudoin M et al.

Circulation. Cardiovascular Genetics, 2012

22923420 (PubMed )
Supplement: 963165_supplemental_material.pdf
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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."