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Response to Spurdle et al

Seth I Berger¹, Georgia Pitsava², Changrui Xiao³

¹Division of Genetics and Metabolism, Children's National Hospital, Washington, DC; Ambry Genetics, Aliso Viejo, CA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|January 9, 2026

Summary

No abstract available in PubMed .

Keywords:

Genome sequencing Intronic variants Pseudoexon RNA sequencing Rare disease

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