Third, in gastrointestinal development, an NFX1 novel de novo variant c.1723G>A (p.Val575Met) was found to be one of the deleterious variants in human esophageal atresia, the most common malformation of the upper digestive tract [26], suggesting a functional significance to NFX1 expression in upper digestive tract development and disease. Here, NFX1 is linked to Esophageal atresia.