From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response
Alexandra Carla Bobica, Sarah Moussa, Lydia Ouchene, Megha Udupa, Hessah BinJadeed, Rahaf Bashihab, Zuzanna Misiewicz, Laura Grönroos, Julie Powell, May Chergui, Tania Cruz Marino, William D. Foulkes, Elena Netchiporouk
Abstract
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsSkin and Cellular Biology Research · Biotin and Related Studies · Retinoids in leukemia and cellular processes