Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

Table 4

GPAA1 and RECQL4 genes both demonstrated a likelihood of being modifier genes of SLC39A4 in developing AE in B03. Note. Please see Sup Materials 3 for “R” software version of complete list of interacting partners with SLC39A4 gene for B03.

Gene	Chromosome	Start-End	Exon	Nucleotide substitution	Protein substitution	EXAC Frequency	CADD Score
GPAA1	Chr8	145140564	11	c.G1540A	p.A514T	0.0053	15.04
RECQL4	Chr8	145740364	9	c.C1576T	p.L526F	0.0007	16.37