Varaico: Literature-Extracted Genetic Variants

Gene:SOX8
Variant:p.E156D
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SOX8

NM_014587.5:p.E156D

Associated Papers

Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.

Vogt EC et al.

Human Reproduction (oxford, England), 2024

37953503 (PubMed )
Supplement: dead233_supplementary_data_file_s1.docx

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Rjiba K et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF et al.

Human Molecular Genetics, 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."