Publications:

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Frontiers In Genetics

Liu, Yingchao Y; Hao, Chanjuan C; Li, Kechun K; Hu, Xuyun X; Gao, Hengmiao H; Zeng, Jiansheng J; Guo, Ruolan R; Liu, Jun J; Guo, Jun J; Li, Zheng Z; Qi, Zhan Z; Jia, Xinlei X; Li, Wei W; Qian, Suyun S

Publication Date: 2021

Variant appearance in text: FBN1: 1995C>A; Tyr665*

PubMed Link: 34539730

Variant Present in the following documents:

• Main text
• fgene-12-677699.pdf
• Table_1.xlsx, sheet 1

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Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Frontiers In Genetics

Hu, Xuyun X; Guo, Ruolan R; Guo, Jun J; Qi, Zhan Z; Li, Wei W; Hao, Chanjuan C

Publication Date: 2020

Variant appearance in text: FBN1: 1995C>A; Tyr665*

PubMed Link: 32595695

Variant Present in the following documents:

• Main text
• fgene-11-00473.pdf

View BVdb publication page