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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAP1

Variant:p.R50delFs

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STAP1

NM_012108.4:p.R50delFs

hg38:chr4:67571112 GA>G

Associated Papers

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I et al.

European Journal of Human Genetics : Ejhg, 2016

26036859 (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."