Varaico: Literature-Extracted Genetic Variants

Gene:NSUN3
Variant:p.W50*
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NSUN3

NM_022072.5:p.W50*

Associated Papers

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Jurkute N et al.

Investigative Ophthalmology & Visual Science, 2025

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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."