A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders
一种用于检测表皮分化障碍中意义不明的PNPLA1错义罕见遗传变异的标准化方法
期刊:JID Innovations
影响因子:
doi:10.1016/j.xjidi.2025.100442
Pell, Nuria; Bernard, Pauline; Courrech, Séverine; Opalka, Lukas; Millán-Sánchez, Aina; Levy, Elise; Garnier, Séverine; Clément, Cyrielle; Le Faouder, Pauline; Vávrová, Katerina; López, Olga; Bertrand-Michel, Justine; Leprince, Corinne; Fourquaux, Isabelle; Mejia, José-Enrique; Pagès, Jean-Christophe; Mazereeuw-Hautier, Juliette; Jonca, Nathalie
