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Figure 2 | Molecular Medicine

Figure 2

From: A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis

Figure 2

Genotype frequencies and probabilities. (A) Frequencies of mutated genotypes, with a prevalence ≥0.006 in the CF (PI + PS) population, are reported in frequency decreasing order according to CF (PI + PS); the last genotype with a prevalence = 0.008 in the CF (PI + PS) population is the F508del/D110H (p.[Phe508del];[Asp110His]). (B) Genotype distribution between populations. Only genotypes found in at least two different populations are shown. The length of the bars is proportional to the frequency of each genotype in the specific population; it represents the probability that the specific genotype is found in each clinical form. See Supplementary Table S4 for genotype HGVS name.

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Molecular Medicine

ISSN: 1528-3658