Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L1
Variant:p.R619*
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NFE2L1

NM_003204.3:p.R619*

Associated Papers

NFE2L1 as a central regulator of proteostasis in neurodegenerative diseases: interplay with autophagy, ferroptosis, and the proteasome.

Khodadadi H et al.

Frontiers in Molecular Neuroscience, 2025

A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive.

Wang JM et al.

Human Mutation, 2022

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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."