FANCONI-BICKEL SYNDROME; FBS

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Summary

Literature (2)

Literature for OMIM 227810: FANCONI-BICKEL SYNDROME; FBS

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

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits., Enogieru OJ,Ung PMU,Yee SW,Giacomini KM,Schlessinger A, Hum Mutat. July 1, 2019; 40(7):1098-1004.

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants., Schumann A,Grünert SC,Baronio F,Tsiakas K,Murko S,Spiekerkoetter U,Santer R, Genes (Basel). November 10, 2021; 12(11):2073-4425.