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P695: Uncertainty in Interpretation of GAA Variants Detected Through Newborn Screening Without Clinical Manifestation of Pompe Disease

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

Genetics in Medicine Open（2024）

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关键词
Gaucher Disease
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