Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.V303V
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SOX2

NM_003106.4:p.V303V

Associated Papers

Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation.

Corona-Rivera JR et al.

American Journal of Medical Genetics. Part A, 2013

Mutations in SOX2 cause anophthalmia.

Fantes J et al.

Nature Genetics, 2003

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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."