Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.Q87*
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COX20

NM_198076.6:p.Q87*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx

Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review.

Su J et al.

International Journal of Women's Health, 2025

Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.

Chen L et al.

Bmc Medical Genomics, 2023

The phenotypic spectrum of COX20-associated mitochondrial disorder.

Ban R et al.

Brain : a Journal of Neurology, 2022

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Dong HL et al.

Brain : a Journal of Neurology, 2021

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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."