Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.
Julia MührerMariarosaria Lang-MuritanoRoger LehmannJean-Louis BlouinValerie M SchwitzgebelPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2022)
) gene, co-segregating with diabetes. The variant was located in the DNA-binding domain, altering a protein residue that was very well conserved among different species.