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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Number of rare germline CNVs and TP53 mutation types

Figure 1

Distribution of CNVs according to TP53 mutation status. The graphs show no differences in the frequency of total CNVs but an increased frequency of rare CNVs in DBD mutation carriers. (A) Frequency of total CNVs in LFS patients and controls; (B) Rare/common CNV ratio in LFS patients and controls. White bar represents the control individuals, grey bar represents p.R337H mutated carriers and dark black bar the TP53 DBD mutated carriers. Fisher-exact test; *p=0.0156 and ***p=0.0002.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172