Associated Papers
Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.
Wang J et al.
Frontiers in Cardiovascular Medicine, 2022
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.
Alstrup M et al.
Jimd Reports, 2021
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Marchet S et al.
Human Mutation, 2020
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger RG et al.
American Journal of Human Genetics, 2017
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
26741492 (PubMed )
Supplement: pgen.1005679.s021.xlsx › Prioritized_variants_from_exome
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