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Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.

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Title: Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Authors: Wang K; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China. www.wky@163.com., Jing M; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, Jiangsu, China., Mao J; Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China., Wang M; Department of Neurology, Children's Hospital of Soochow University, Suzhou, Jiangsu, China., Lin Y; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China., Peng M; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China., Zheng F; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China., Zhang L; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China., He Q; Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China. hqzlul@163.com.
Source: Journal of human genetics [J Hum Genet] 2026 May; Vol. 71 (5), pp. 283-291. Date of Electronic Publication: 2025 Dec 10.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1435-232X
DOI:10.1038/s10038-025-01433-y