Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.L82fs
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SOX2

NM_003106.4:p.L82fs

Associated Papers

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Mauri L et al.

European Journal of Medical Genetics, 2015

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

Chassaing N et al.

Clinical Genetics, 2014

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Gerth-Kahlert C et al.

Molecular Genetics & Genomic Medicine, 2013

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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."