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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1943
Abstract: Mitochondrial disease (MD) is genetically a heterogeneous group of disorders with impairment in respiratory chain complexes or pathways associated with the mitochondrial function. Nowadays, it is still a challenge for the genetic screening of MD…
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Keywords:
alternative method;
whole exome;
method diagnosis;
exome sequencing ... See more keywords