Wholeâgenome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Plesser Duvdevani, Morasha, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, TamarЖурнал:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61539
Date:
March, 2020
Файл:
PDF, 3.14 MB
2020
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