Associated Papers
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K et al.
American Journal of Human Genetics, 2019
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