Varaico: Literature-Extracted Genetic Variants

Gene:KERA
Variant:p.E230K
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KERA

NM_007035.4:p.E230K

Associated Papers

Mediterranean fever gene variants and colchicine therapy in periodic fever, aphthous stomatitis pharyngitis, adenitis syndrome in a Mediterranean region.

Haytoglu Z et al.

Expert Review of Clinical Immunology, 2019

Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.

Aldave AJ et al.

Ophthalmic Genetics, 2007

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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."