Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB11
Variant:p.P110S
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NDUFB11

NM_001135998.3:p.P110S

Associated Papers

Successful treatment of congenital sideroblastic anemia with low-dose decitabine in a patient with NDUFB11 gene mutation (c.276_278del): A case report.

Wang J et al.

Current Research in Translational Medicine, 2025

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

Amate-García G et al.

International Journal of Molecular Sciences, 2023

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Reinson K et al.

European Journal of Medical Genetics, 2019

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S et al.

Molecular Genetics and Metabolism Reports, 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."