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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SREBF2

Variant:p.V383A

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SREBF2

NM_004599.4:p.V383A

hg38:chr22:41875395 T>C

Associated Papers

Functional analysis of PCSK9 3'UTR variants and mRNA-miRNA interactions in patients with familial hypercholesterolemia.

Los B et al.

Epigenomics, 2021

33899508 (PubMed )

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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."