Varaico: Literature-Extracted Genetic Variants

Gene:CHST4
Variant:p.R205L
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CHST4

NM_001166395.2:p.R205L

Associated Papers

Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.

Iida-Hasegawa N et al.

Investigative Ophthalmology & Visual Science, 2003

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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."