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Fig. 5 | Genome Medicine

Fig. 5

From: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

Fig. 5

Locations of rare, predicted deleterious variants in KLK1 (a) and GGCX (b) across the PAH Biobank cohort (n = 2572 cases). Locations are provided within the two-dimensional protein structures. The numbers of variants at each amino acid position are indicated along the y-axes. The vertical gray lines indicate exon borders. D-MIS, predicted damaging missense; LGD, likely gene disrupting (stop-gain, frameshift, splicing)

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