Open AccessA novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome
Author(s) -
Hu Yuan,
Peng Qi,
Ma Keze,
Li Siping,
Rao Chunbao,
Zhong Baimao,
Lu Xiaomei
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23413
Subject(s) - proband , genetics , nonsense mutation , mutation , exome sequencing , haploinsufficiency , biology , exome , exon , gene , mutation testing , phenotype , missense mutation