Varaico: Literature-Extracted Genetic Variants

Gene:GSX2
Variant:p.W249C
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GSX2

NM_133267.3:p.W249C

Associated Papers

Modelling a pathological GSX2 variant that selectively alters DNA binding reveals hypomorphic mouse brain defects.

Tweedie L et al.

Disease Models & Mechanisms, 2025

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.

Ürel-Demir G et al.

Molecular Syndromology, 2024

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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."