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Fig. 1 | Journal of Medical Case Reports

Fig. 1

From: R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series

Fig. 1

Cystic fibrosis transmembrane conductance regulator protein. a Two-dimensional model of the cystic fibrosis transmembrane conductance regulator protein with major functional components. b Wild-type intracellular loop 2/cellular loop 2 primary protein structure depicting amino acid properties. c Intracellular loop 2/cellular loop 2 regions clinically associated with congenital bilateral absence of the vas deferens or congenital unilateral absence of the vas deferens resulting from a reported missense mutation. ICL2/CL2 intracellular loop 2/cellular loop 2, NBD1 nucleotide-binding domain 1, NBD2 nucleotide-binding domain 2

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