Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.V623M
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SREBF2

NM_004599.4:p.V623M

Associated Papers

Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.

Dagli-Hernandez C et al.

Pharmacogenetics and Genomics, 2024

Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects.

Muller PY et al.

Journal of Medical Genetics, 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."