Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.

Kelly E Regan-Fendt,Alyssa L Rippert,Livija Medne,Cara M Skraban,Jeshua DeJesse,Christopher Gray,Sara L Reichert, Nicholas P Staropoli,Francis Jeshira Reynoso Santos,Ian D Krantz,Jill R Murrell,Kosuke Izumi

American journal of medical genetics. Part A（2023）

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exom sqequencing, nuclear speckle, neurocognitive impairment, reanalysis

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