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
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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