Associated Papers
KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review.
Anastasescu CM et al.
Life (basel, Switzerland), 2025
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
Langley E et al.
American Journal of Medical Genetics. Part A, 2022
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