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 Bell, Ramakrishnan Rajagopalan,Michelle G de Silva,Aida Lemes, Cristin Zabala, Florencia Perez,Alfredo Cerisola,Arastoo Vossough,Matthew Whitehead, Chloe Cunningham,Natasha Brown, Rebecca Quin,Cas Simons,Eloise Uebergang,Rocio Rius, Meutia Kumaheri, Emma Kotes, Ananya Vohra,Kathleen E Sullivan,Miranda Galey, Zachary Anderson, Sophie Storz, Sydney Ward,Joy Goffena,Jonas A Gustafson, Thomas Conway,Susan M White, Adeline Vanderver, Danny Miller crossref（2024）
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