https://www.selleckchem.com/pr....oducts/Methazolaston
We found 51 pathogenic/likely pathogenic variants in 23 genes and two pathogenic copy number variations. Our results provide evidence that phenotype driven exome analysis diagnostic approach facilitates the diagnostic rate of complex, heterogeneous disorders, such as myopathies, particularly in paediatric patients and patients with unspecified myopathies. Our results provide evidence that phenotype driven exome analysis diagnostic approach facilitates the diagnostic rate of complex, heterogeneous disorders, such as myopathies, pa
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