Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.S517insFs
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KRT1

NM_006121.4:p.S517insFs

Associated Papers

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.

Yang Z et al.

Pediatric Investigation, 2023

37736367 (PubMed )
Supplement: PED4-7-168-s001.pdf

Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.

Pan Y et al.

Journal of Dermatological Science, 2020

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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."