Varaico: Literature-Extracted Genetic Variants

Gene:STOX1
Variant:p.L582F
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STOX1

NM_152709.5:p.L582F

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

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

Parchem JG et al.

Jci Insight, 2021

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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."