Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

Antzeko izenburuak

• Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1
  nork: Blackburn, Patrick R., et al.
  Argitaratua: (2017)
• Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
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• Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
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• Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing
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• Whole exome sequencing of suspected mitochondrial patients in clinical practice
  nork: Wortmann, Saskia B., et al.
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