Figure 4: Cartoon of LZTR1 mutations showing the variants identified here in autosomal recessive Noonan syndrome above the protein and those previously reported in autosomal dominant Noonan syndrome below the protein.
From: Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
The ^ symbol indicates that these two variants were in cis on this mutant allele and it is hypothesized that p.(Arg170Trp) is pathogenic; see text.
