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10.1038/ejhg.2016.49

http://scihub22266oqcxt.onion/10.1038/ejhg.2016.49
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C5110049!5110049 !27222289
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suck abstract from ncbi


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pmid27222289       Eur+J+Hum+Genet 2016 ; 24 (11 ):
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  • Clinical utility gene card for: Wolfram syndrome #MMPMID27222289
  • Moosajee M ; Yu-Wai-Man P ; Rouzier C ; Bitner-Glindzicz M ; Bowman R
  • Eur J Hum Genet 2016[Nov]; 24 (11 ): PMID27222289 show ga
  • ä
  • |Aging, Premature/genetics [MESH]
  • |DNA Mutational Analysis [MESH]
  • |Exons [MESH]
  • |Genetic Testing/methods [MESH]
  • |Genotype [MESH]
  • |Hearing Loss, Sensorineural/genetics [MESH]
  • |Humans [MESH]
  • |Membrane Proteins/genetics [MESH]
  • |Mitochondrial Diseases/genetics [MESH]
  • |Mutation [MESH]
  • |Optic Atrophy/genetics [MESH]
  • |Pathology, Molecular [MESH]
  • |Risk Assessment [MESH]
  • |Sensitivity and Specificity [MESH]


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