Next generation sequencing identified two novel mutations...

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, Lingqian
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Volume:
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
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