Varaico: Literature-Extracted Genetic Variants

Gene:STOX1
Variant:p.T188N
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STOX1

NM_152709.5:p.T188N

Associated Papers

Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.

Costa L et al.

Iscience, 2024

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

Parchem JG et al.

Jci Insight, 2021

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
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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."