Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.R645Q
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SREBF2

NM_004599.4:p.R645Q

Associated Papers

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."