Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.R53fs
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SOX2

NM_003106.4:p.R53fs

Associated Papers

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL et al.

Clinical Endocrinology, 2017

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing N et al.

Clinical Genetics, 2014

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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."