Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.P280L
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CHST6

NM_021615.5:p.P280L

Associated Papers

Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.

Zhang W et al.

American Journal of Ophthalmology, 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."