Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.P112L
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SOX2

NM_003106.4:p.P112L

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

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

Dennert N et al.

American Journal of Medical Genetics. Part A, 2017

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