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Literature for OMIM 227810: FANCONI-BICKEL SYNDROME; FBS
Xenbase Articles:
( Denotes literature images)
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits., Enogieru OJ,Ung PMU,Yee SW,Schlessinger A,Giacomini KM, Hum Mutat. July 1, 2019; 40(7):1098-1004. |
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants., Grünert SC,Schumann A,Baronio F,Tsiakas K,Murko S,Spiekerkoetter U,Santer R, Genes (Basel). November 10, 2021; 12(11):2073-4425. |