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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Samuel M Bradbrook1, Gail Graham2, Melissa T Carter2
1Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Genetic variants in ZNF865 cause intellectual disability. This study identified de novo truncating variants in ZNF865 in 18 patients with developmental delay, suggesting a new genetic cause for this condition.
Area of Science:
- Genetics
- Human Disease
- Neurodevelopmental Disorders
Background:
- The function of most protein-coding genes in human disease is not fully understood.
- Exome sequencing aids in identifying genotype-phenotype associations for rare diseases.
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