Fig. 2
From: Lethal variants in humans: lessons learned from a large molecular autopsy cohort
Identification of EHBP1L1-related lethal phenotype. A, B Pedigree of 14DG1037 and sequence chromatogram of EHBP1L1:NM_001099409.3:c.3333_3346delinsAGAGTCAGTAGCA variant. C, D Pedigree of 18DG0247 and RT-PCR of the variant EHBP1L1:NM_001099409:c.4004-1G>A) confirming aberrant splicing with skipping of exon-14. E Sketch for EHBP1L1 transcript and protein, arrows denote mutated bases and residues