Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.R32P
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SIX6

NM_007374.3:p.R32P

Associated Papers

Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.

Arcot Sadagopan K

Ophthalmic Genetics, 2025

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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."