Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L284P
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KRT14

NM_000526.5:p.L284P

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.

Favre B et al.

Plos One, 2018

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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."