@misc{indiciaec3637efbfb70, title = {Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.}, author = {Takashi Okuno and Tatsuto Shimizu and Aiko Igarashi and Kazumi Ikeda and Masamichi Ikawa and Sumihito Togi and Hiroki Ura and Yo Niida and Katsutsugu Umeda}, year = {2026}, doi = {10.1002/ajmg.a.70302}, url = {https://pubmed.ncbi.nlm.nih.gov/42733123/}, note = {Source identifier: 42733123} }