Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.N1153fs
Back to variants list

NEXMIF

NM_001008537.3:p.N1153fs

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

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

Martinez-Granero F et al.

Npj Genomic Medicine, 2021

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

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."