TY  - RPRT
TI  - Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.
AU  - Takashi Okuno
AU  - Tatsuto Shimizu
AU  - Aiko Igarashi
AU  - Kazumi Ikeda
AU  - Masamichi Ikawa
AU  - Sumihito Togi
AU  - Hiroki Ura
AU  - Yo Niida
AU  - Katsutsugu Umeda
PY  - 2026
DO  - 10.1002/ajmg.a.70302
UR  - https://pubmed.ncbi.nlm.nih.gov/42733123/
ID  - 42733123
ER  -