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Figure 1 | Molecular Medicine

Figure 1

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

Figure 1

Allele frequencies and probabilities. (A) Frequencies of mutated alleles, with a prevalence ≥0.006 in the CF (PI + PS) population, are reported in frequency decreasing order according to CF (PI + PS); the last mutation with a prevalence = 0.008 in the CF (PI + PS) population is the R334W (p.Arg334Trp). (B) Allele distribution between populations. Only alleles found in at least two different populations are shown. The length of the bars is proportional to the frequency of each allele in the specific population; it represents the probability that the specific allele is found in each clinical form. See Supplementary Table S3 for allele HGVS name.

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Molecular Medicine

ISSN: 1528-3658