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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Sevim Bayrak C, Stein D, Jain A, Chaudhary K, Nadkarni GN, Van Vleck TT, Puel A, Boisson-Dupuis S, Okada S, Stenson PD, Cooper DN, Schlessinger A, Itan Y. Sevim Bayrak C, et al. Among authors: stein d. Am J Hum Genet. 2021 Dec 2;108(12):2301-2318. doi: 10.1016/j.ajhg.2021.10.007. Epub 2021 Nov 10. Am J Hum Genet. 2021. PMID: 34762822 Free PMC article.
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: stein d. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820
3,746 results