Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.N204D
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COX10

NM_001303.4:p.N204D

Associated Papers

Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.

Voges TS et al.

Bmc Research Notes, 2024

Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Yang J et al.

Cells, 2022

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

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

Mukherjee S et al.

Mitochondrion, 2020

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Tesarova M et al.

Pediatric Blood & Cancer, 2019

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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."