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

Bibliographic Details
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
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424007453

Similar Items