Publications:

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Frontiers In Genetics

Wilhelm, Kevin K; Edick, Mathew J MJ; Berry, Susan A SA; Hartnett, Michael M; Brower, Amy A

Publication Date: 2022

Variant appearance in text: PAH: 1040T>A

PubMed Link: 35692825

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 2

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Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension.

Pulmonary Circulation

Zeng, Xiaofang X; Lian, Tianyu T; Lin, Jianhui J; Li, Suqi S; Zheng, Haikuo H; Cheng, Chunyan C; Ye, Jue J; Jing, Zhicheng Z; Wang, Xiaojian X; Huang, Wei W

Publication Date: 2018

Variant appearance in text: PAH: 1040T>A

PubMed Link: 29480072

Variant Present in the following documents:

• Main text
• 10.1177_2045894018763682.pdf

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