The length of FOXE1 polyalanine tract in congenital hypothyroidism: evidence for a pathogenic role from familial and cohort studies.

This dataset contains the VCF data for the paper "The length of FOXE1 polyalanine tract in congenital hypothyroidism: evidence for a pathogenic role from familial and cohort studies". In this paper, We applied NGS screening to a large CH family and a cohort of 1752 individuals and validated these results by in silico modeling and in vitro experiments. A custom NGS panel covering all exons and adjacent intronic regions of the DUOX2, DUOXA2, FOXE1, GLIS3, IYD, JAG1, NKX2-1, NKX2-5, PAX8, SLC26A4, SLC5A5, TG, TPO and TSHR genes was designed using the GenomeStudio software