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Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia |
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| Authors: | Carmel G. McCullough Szabolcs Szelinger Newell Belnap Keri Ramsey Isabelle Schrauwen Ana M. Claasen Leah W. Burke Ashley L. Siniard Matthew J. Huentelman Vinodh Narayanan David W. Craig |
| Abstract: | |
| Keywords: | AP‐4 deficiency syndrome AP4S1 intronic variant spastic paraplegia type 52 splicing |