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doi: 10.1038/s41598-018-26423-3 152 SwansonKSGibsonGRHutkinsRReimerRAReidGVerbekeKet al
Varkey, E., Cider, A., Carlsson, J
B7 (biotina)
Suleiman SA, et al
17 In family Jer, two affected siblings homozygous for the R399Q mutation presented either early in life with hypoglycemic coma or with mild delays later in life
