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Last 12 months

February 23, 2015

February 2, 2015

January 27, 2015

January 19, 2015

January 12, 2015

  • Condition: renal hypouricemia
  • Gene: SLC2A9: solute carrier family 2 (facilitated glucose transporter), member 9
  • Gene: SLC22A12: solute carrier family 22 (organic anion/urate transporter), member 12

January 5, 2015

December 29, 2014

December 22, 2014

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

November 17, 2014

November 11, 2014

  • Condition: bradyopsia
  • Gene: RGS9: regulator of G-protein signaling 9
  • Gene: RGS9BP: regulator of G protein signaling 9 binding protein

November 4, 2014

October 27, 2014

October 20, 2014

October 6, 2014

September 29, 2014

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September 8, 2014

September 1, 2014

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August 4, 2014

July 28, 2014

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April 28, 2014

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March 24, 2014

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March 4, 2014

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Published: February 23, 2015