Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.D141E
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KRT12

NM_000223.4:p.D141E

Associated Papers

Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.

Cao W et al.

The Journal of International Medical Research, 2013

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Chen YT et al.

Cornea, 2005

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.

Irvine AD et al.

The British Journal of Ophthalmology, 2002

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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."