article_metadata: Cesare Rossi Sherin Ramadan Cecilia Evangelisti Simona Ferrari Maria Accadia Reha M Toydemir Emanuele Panza
article_metadata: 10.3389/fgene.2023.1082100
article_metadata: Front Genet
article_metadata: 2023 Feb 9;14:1082100.
article_metadata: charge syndrome chd7 intronic variant minigene splice site mutation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36845402/
article_metadata: Case Reports
article_metadata: PMC9947648
article_metadata: 36845402
article_metadata: Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
article_metadata: 2023