Varaico: Literature-Extracted Genetic Variants

Gene:SOX18
Variant:p.P133L
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SOX18

NM_018419.3:p.P133L

Associated Papers

Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.

Racca JD et al.

Frontiers in Endocrinology, 2022

36568077 (PubMed )
Supplement: DataSheet_1.pdf

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N et al.

Genome Medicine, 2018

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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."