Of families studied, showing genotypes (./. NA, 0/0 WT, 0/1 heterozygous, 1/1 homozygous) and Sanger
Of families studied, displaying genotypes (./. NA, 0/0 WT, 0/1 heterozygous, 1/1 homozygous) and Sanger sequencing benefits for proband, and unaffected control. The proband(s) that had been sequenced are indicated…