Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.Q230*
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COX10

NM_001303.4:p.Q230*

Associated Papers

Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.

Lee IC et al.

Antioxidants (basel, Switzerland), 2021

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

SURF1 deficiency: a multi-centre natural history study.

Wedatilake Y et al.

Orphanet Journal of Rare Diseases, 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."