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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STOX1

Variant:p.L14V

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STOX1

NM_152709.5:p.L14V

hg38:chr10:68827663 C>G

Associated Papers

STOX1 deficiency is associated with renin-mediated gestational hypertension and placental defects.

Parchem JG et al.

Jci Insight, 2021

33301424 (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."