Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.P38S
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SOX2

NM_003106.4:p.P38S

Associated Papers

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Lima Cunha D et al.

Genes, 2019

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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."