Associated Papers
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster R et al.
Clinical Genetics, 2017
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