Varaico: Literature-Extracted Genetic Variants

Gene:COXFA4
Variant:p.C44Splc
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COXFA4

NM_002489.4:p.C44Splc

Associated Papers

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.

Marquez J et al.

Hgg Advances, 2025

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S10

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Macken WL et al.

Nature Communications, 2022

36344503 (PubMed )
Supplement: 41467_2022_32908_MOESM1_ESM.pdf
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