Last Updated: 09/26/2026
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Found 2 publications
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Journal: American journal of human genetics
Published: December 07, 2023
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
Journal: European journal of medical genetics
Published: January 28, 2020
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Last Updated: 09/26/2026