Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

Authors: Fangyi Chen, Priyanka Ahimaz, Quan M. Nguyen, Rachel Lewis, Wendy K. Chung, Casey N. Ta, Katherine M. Szigety, Sarah E. Sheppard, Ian M. Campbell, Kai Wang, Chunhua Weng, Cong Liu

Published: 2024-11-21

DOI: 10.1038/s41746-024-01331-1

Source: Full article

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Abstract

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