PMC6875291_01
Sanger sequencing results of the child (hemizygous for the variant), mother (heterozygous for the variant) and father (hemizygous for the ancestral allele) respectively.
CRIG2019-2687595.001.jpg
PMC6875291_01_CRIG2019-2687595.001.jpg
fig1
It was confirmed that the child was hemizygous and the mother was heterozygous for the variant (Figure 1).
PMC6875291_02