Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.K734delFs
Back to variants list

NEXMIF

NM_001008537.3:p.K734delFs

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

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

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

de Lange IM et al.

Journal of Medical Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."