Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.L355delFs
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NEXMIF

NM_001008537.3:p.L355delFs

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

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Mayo S et al.

International Journal of Molecular Sciences, 2021

Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Sun H et al.

Life (basel, Switzerland), 2021

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

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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."