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Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele
 
 

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Journal: Int. J. Neonatal Screen., 2025
Volume: 11
Number: 101

Article: A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP)
Authors: by Macie Hricovec, Amy Gaviglio, Christina Mealwitz, Michelle Merrill and Aaron J. Goldenberg
Link: https://www.mdpi.com/2409-515X/11/4/101

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