Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.R70Q
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SOX17

NM_022454.4:p.R70Q

Associated Papers

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.

Gallego-Zazo N et al.

Genes, 2023

37895315 (PubMed )
Supplement: genes-14-01965-s001.zip › genes-2632416-supplementary.pdf

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

SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension.

Hiraide T et al.

American Journal of Respiratory and Critical Care 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."