Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.H392Q
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CHST6

NM_021615.5:p.H392Q

Associated Papers

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

Birgani SA et al.

Molecular Vision, 2009

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Gruenauer-Kloevekorn C et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008

Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

Aldave AJ et al.

American Journal of Ophthalmology, 2004

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."