Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA8
Variant:p.E109K
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NDUFA8

NM_014222.3:p.E109K

Associated Papers

Single-cell multi-gene identification of somatic mutations and gene rearrangements in cancer.

Grimes SM et al.

Nar Cancer, 2023

37435532 (PubMed )
Supplement: zcad034_supplemental_files.zip › Tables_Supplementary.xlsx › SpTable03_Jurkat_mutations

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

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.

Yatsuka Y et al.

Clinical Genetics, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321

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

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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."