Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.P420L
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COX10

NM_001303.4:p.P420L

Associated Papers

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

Voges TS et al.

Bmc Research Notes, 2024

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

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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