P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
Main Authors: | 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 |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-01-01
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Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424007453 |
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