Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
Tang, Hui, Guo, Jing, Linpeng, Siyuan, Wu, LingqianVolume:
14
Language:
english
Journal:
Orphanet Journal of Rare Diseases
DOI:
10.1186/s13023-019-1022-8
Date:
December, 2019
File:
PDF, 3.60 MB
english, 2019