article_metadata: Ming Li Jingqi Lin Hongjun Fei Jinyu Liu Yiyao Chen Xu Han Yanlin Wang Jian Wang Renyi Hua Shuyuan Li Niu Li
article_metadata: 10.1186/s13023-024-03510-5
article_metadata: Orphanet J Rare Dis
article_metadata: 2025 Feb 3;20(1):48.
article_metadata: smarcc2 crystal structure analysis novel splicing variant syndromic neurodevelopmental disorder cdna sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39901255/
article_metadata: Neurodevelopmental Disorders / genetics
article_metadata: Neurodevelopmental Disorders / genetics Case Reports Adult Exome Sequencing Female Humans Male Pedigree Phenotype RNA Splicing / genetics
article_metadata: PMC11792323
article_metadata: 39901255
article_metadata: Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
article_metadata: 2025