Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.G1018fs
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NEXMIF

NM_001008537.3:p.G1018fs

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

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 mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

de Lange IM et al.

Journal of Medical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."