Fig. 2: Pathogenic FLCN variants. | European Journal of Human Genetics

Fig. 2: Pathogenic FLCN variants.

From: A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours

Fig. 2

A Missense/in-frame variants in red, frameshifts in blue, nonsense variants in light green, large deletions/duplications in orange. Bars are proportional to numbers of affected individuals, for mutational hotspots the number of individuals is given above each bar. ‘Pneumothorax-only’ pathogenic variants (POPV) shown above exons, all other variants shown below. B Histogram of individuals affected by POPV (red), all other variants (purple). C Ages of individuals reported to carry POPV (red) or all other FLCN variants (purple) (colour figure online).

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