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Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency
Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency
2016
Eliška Holzerová
Rikke K.J. Olsen
Teresa Anna Giancaspero
Signe Mosegaard
Veronika Boczonadi
Lavinija Mataković
Daniele Ghezzi
Cécile Acquaviva
Avihu Boneh
Johannes A. Mayr
Niels Gregersen
Rita Horvath
Maria Barile
Holger Prokisch
Keywords:
Frameshift mutation
Biology
Molecular biology
Respiratory Chain Deficiency
Biochemistry
Loss function
ATP synthase
Genetics
Gene
Correction
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