Associated Papers
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
41728594 (PubMed )
Supplement: Data_Sheet_1.docx
NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.
Wang L et al.
Translational Pediatrics, 2023
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
Wu D et al.
American Journal of Medical Genetics. Part A, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1
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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