Varaico: Literature-Extracted Genetic Variants

Gene:PAGE4
Variant:p.S73C
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PAGE4

NM_007003.4:p.S73C

Associated Papers

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Huang Y et al.

Annals of Translational Medicine, 2021

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

Qi YH et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010

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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."