Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.D457_L458delFs
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KRT1

NM_006121.4:p.D457_L458delFs

Associated Papers

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

Renz P et al.

Journal of Cellular and Molecular Medicine, 2019

31638346 (PubMed )
Supplement: JCMM-23-8442-s007.docx
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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."