Fig. 1
From: A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease
Family tree and genetic characteristics of the proband in PVOD. a Pedigree of the family with a rare compound heterozygous EIF2AK4 mutation in PVOD. b Visualization of mutations in EIF2AK4 using Integrative Genomics Viewer. The proband was a compound heterozygote with mutations in exon 9 c.1387C > T and exon 12 c.2236_2237insAAGTCCTTCT. c WES showed that variations in c.1387C > T and c.2236_2237insAAGTCCTTCT were heterozygous in the proband. Blue arrows indicate the point mutation. PVOD, Pulmonary veno-occlusive disease; WES, whole exome sequencing