Genetic & Genomic MedicinemedRxivPreprint
A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease
Carlos A. Dominguez Gonzalez, Katrina M. Bell, Ramakrishnan Rajagopalan…·Danny E. Miller
The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.
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