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Varkey, E., Cider, A., Carlsson, J
10.1111/j.1574-6968.2001.tb10531.x
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
doi: 10.1038/s41598-018-26423-3 152 SwansonKSGibsonGRHutkinsRReimerRAReidGVerbekeKet al
