Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.L433R
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KRT12

NM_000223.4:p.L433R

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

In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.

Nishino T et al.

Japanese Journal of Ophthalmology, 2019

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

Chen JL et al.

Molecular Vision, 2015

KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.

Ogasawara M et al.

American Journal of Ophthalmology, 2014

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 in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.

Seto T et al.

Japanese Journal of Ophthalmology, 0

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