Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.N133K
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KRT12

NM_000223.4:p.N133K

Associated Papers

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Chen JL et al.

Molecular Vision, 2015

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

Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

Hassan H et al.

Eye (london, England), 2013

Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.

Clausen I et al.

Molecular Vision, 2010

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Sullivan LS et al.

Molecular Vision, 2007

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 arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

Yoon MK et al.

The British Journal of Ophthalmology, 2004

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."