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    • Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies 

      Feichtinger, RG; Oláhová, M; Kishita, Y; Garone, Caterina; Kremer, LS; Yagi, M; Uchiumi, T et al. (Elsevier, 2017-10-05)
      Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized ...