P444: SMA carrier screening utilizing SNP array technology and confirmatory ddPCR reveals an isolated SMN1 exon 8 deletion

Bibliographic Details
Main Authors: Noemi Vidal-Folch, Jennifer Winters, Devin Oglesbee, Linda Hasadsri, Sara Cook
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423004910