Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB9
Variant:p.L64P
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NDUFB9

NM_005005.3:p.L64P

Associated Papers

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.

Barshad G et al.

Scientific Reports, 2019

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

Stroud DA et al.

Nature, 2016

Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.

Iommarini L et al.

The International Journal of Biochemistry & Cell Biology, 2013

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB et al.

Journal of Medical Genetics, 2012

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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."