Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.D223delFs
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SOX11

NM_003108.4:p.D223delFs

Associated Papers

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

Bai G et al.

Bmc Medical Genomics, 2024

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Pasquetti D et al.

Clinical Genetics, 2024

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