Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF7
Variant:p.D266E
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NDUFAF7

NM_144736.5:p.D266E

Associated Papers

Association of mitochondrial DNA variation with high myopia in a Han Chinese population.

Xing S et al.

Molecular Genetics and Genomics : Mgg, 2023

Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.

Ye M et al.

Molecular Genetics and Genomics : Mgg, 2023

Letter to Editor: A Novel Causative Variant of NDUFAF7 in Brothers with Dilated Cardiomyopathy.

Kim M et al.

Annals of Clinical and Laboratory Science, 2022

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

Mukherjee S et al.

Mitochondrion, 2020

Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.

Liu F et al.

Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2020

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.

Wang B et al.

Investigative Ophthalmology & Visual Science, 2017

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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."