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2. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

3. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

4. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

8. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

9. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

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