Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA3
Variant:p.R4Splc
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NDUFA3

NM_004542.4:p.R4Splc

Associated Papers

Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Nakamura K et al.

Neurology. Genetics, 2026

Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.

Sun Y et al.

Pediatric Research, 2025

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.

Li BG et al.

Neurogenetics, 2024

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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."