Publications:

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Human Mutation

Liu, Juan J; Zheng, Yu Y; Huang, Jiaotian J; Zhu, Desheng D; Zang, Ping P; Luo, Zhenqing Z; Yang, Yongjia Y; Peng, Yu Y; Xiao, Zhenghui Z; Zhu, Yimin Y; Lu, Xiulan X

Publication Date: 2021-11

Variant appearance in text: DNAH11: 6934T>C; Ser2312Pro

PubMed Link: 34298581

Variant Present in the following documents:

• Main text
• HUMU-42-1443.pdf

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