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December 16, 2014

December 9, 2014

December 1, 2014

  • Condition: 1q21.1 microduplication
  • Condition: Perrault syndrome
  • Gene: CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
  • Gene: EXOSC3: exosome component 3
  • Gene: HARS2: histidyl-tRNA synthetase 2, mitochondrial
  • Gene: LARS2: leucyl-tRNA synthetase 2, mitochondrial
  • Gene: SEPSECS: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

November 24, 2014


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Published: December 16, 2014