Varaico: Literature-Extracted Genetic Variants

Gene:NUBPL
Variant:p.G287C
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NUBPL

NM_025152.3:p.G287C

Associated Papers

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.

Kimonis V et al.

Journal of Medical Genetics, 2021

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Maclean AE et al.

Human Molecular Genetics, 2018

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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."