Hiroki Ura

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G ( p.Asp1758Gly ), in CHARGE Syndrome

ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence...