P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease

oleh: Dona Kanavy, Jenny Goldstein, Filippo Pinto e Vairo, Deeksha Bali, Xiangwen Chen-Deutsch, Taraka Donti, Shelly Goomber, Jennifer McGlaughon, Yinghong Pan, Bryce Seifert, Raquel Fernandez, Emily Kyle, Meredith Weaver, Lorne Clarke, Catherine Rehder

Format: Article
Diterbitkan: Elsevier 2024-01-01

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