2020YFA0112500/Ministry of Science and Technology of China[Grants and Funding] - Search Results

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A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications.

Meng Y, Wang X, Liu K, Tang X, Li H, Chen J, Zhong Z. Meng Y, et al. Ital J Pediatr. 2025 Feb 14;51(1):47. doi: 10.1186/s13052-025-01887-y. Ital J Pediatr. 2025. PMID: 39948613 Free PMC article.

Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.

Liu K, Chen Y, Meng Y, Wang X, Tang X, Li H, Chen J, Zhong Z. Liu K, et al. Hum Genomics. 2025 Jun 28;19(1):72. doi: 10.1186/s40246-025-00782-1. Hum Genomics. 2025. PMID: 40581672

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