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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAP1

Variant:p.C87R

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STAP1

NM_012108.4:p.C87R

hg38:chr4:67575451 T>C

Associated Papers

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.

Grenkowitz T et al.

Atherosclerosis, 2016

27596133 (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."