Fig. 2
Sanger sequencing confirmed the hemizygous ARSL NM_000047.3 c.1108del p.(Trp370Glyfs*35) variant in the fetus. The mother was a heterozygous carrier of the c.1108del variant
Fig. 2 | BMC Medical Genomics
Sanger sequencing confirmed the hemizygous ARSL NM_000047.3 c.1108del p.(Trp370Glyfs*35) variant in the fetus. The mother was a heterozygous carrier of the c.1108del variant