Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.M210delFs
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SOX2

NM_003106.4:p.M210delFs

Associated Papers

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Schneider A et al.

American Journal of Medical Genetics. Part A, 2009

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J et al.

Molecular Vision, 2008

SOX2 anophthalmia syndrome.

Ragge NK et al.

American Journal of Medical Genetics. Part A, 2005

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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."