Varaico: Literature-Extracted Genetic Variants

Gene:CHST5
Variant:p.V198E
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CHST5

NM_024533.5:p.V198E

Associated Papers

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.

Birgani SA et al.

Molecular Vision, 2009

Novel mutations in the CHST6 gene causing macular corneal dystrophy.

Abbruzzese C et al.

Clinical Genetics, 2004

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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."