Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Dominguez Gonzalez CA, Bell KM, Rajagopalan R, de Silva MG, Lemes A, Zabala C, Pérez-Vidarte F, Cerisola A, Vossough A, Whitehead MT, Cunningham C, Brown NJ, Quin R, Simons C, Conway T, Uebergang E, Rius R, Kumaheri MA, Kotes ER, Vohra A, Zalusky MPG, Anderson ZB, Storz SHR, Ward SA, Goffena J, Gustafson JA, White SM, Vanderver A, Miller DE.