Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.Q141fs
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NEXMIF

NM_001008537.3:p.Q141fs

Associated Papers

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

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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."