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P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
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Titel: |
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
Auteur: |
Kanavy, Dona Goldstein, Jenny Pinto e Vairo, Filippo Bali, Deeksha Chen-Deutsch, Xiangwen Donti, Taraka Goomber, Shelly McGlaughon, Jennifer Pan, Yinghong Seifert, Bryce Fernandez, Raquel Kyle, Emily Weaver, Meredith Clarke, Lorne Rehder, Catherine |
Verschenen in: |
Genetics in medicine open |
Paginering: |
Jaargang 2 () nr. S1 pagina's p. |
Jaar: |
2024 |
Inhoud: |
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Uitgever: |
Published by Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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