Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.R371K
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SREBF2

NM_004599.4:p.R371K

Associated Papers

Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease.

Brady GF et al.

Hepatology (baltimore, Md.), 2018

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."