Applying Phenotypic Evidence to Support the Molecular Diagnosis of Inborn Errors of Metabolism (IEMS) Across Diverse Clinical Contexts: the ClinGen IEM Variant Curation Expert Panel (VCEP) ExperienceEmily Groopman,Jenny Goldstein,Alexa Dickson,Diane Zastrow,Shruthi Mohan,Amanda Thomas-Wilson,Ljubica Caldovic,Emily Kyle,Tatiana Yuzyuk,Irene De Biase,Kara Simpson,Dona Kanavy,Elaine Spector,Marzia Pasquali,Catherine Rehder,Andrew Stergachis, Michelle Whirl-Carlo,Heather Baudet,Christina Hung,Nancy E. Braverman,Saadet Mercimek-Andrews,Meredith Weaver,William Craigen,Rong MaoMOLECULAR GENETICS AND METABOLISM（2024）引用 0|浏览26AI 理解论文溯源树样例生成溯源树，研究论文发展脉络Chat Paper正在生成论文摘要
