Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB11
Variant:p.A131T
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NDUFB11

NM_001135998.3:p.A131T

Associated Papers

Case report: severe hypertrophic cardiomyopathy in a female neonate caused by de novo variant in NDUFB11.

Tariq J et al.

European Heart Journal. Case Reports, 2024

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.

Shimura M et al.

Scientific Reports, 2019

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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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."