Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.W40*
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NDUFS4

NM_002495.4:p.W40*

Associated Papers

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.

Sonsalla G et al.

Neuron, 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."