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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
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  Data: Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Wang+K%22">Wang K</searchLink>; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China. www.wky@163.com.<br /><searchLink fieldCode="AU" term="%22Jing+M%22">Jing M</searchLink>; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, Jiangsu, China.<br /><searchLink fieldCode="AU" term="%22Mao+J%22">Mao J</searchLink>; Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China.<br /><searchLink fieldCode="AU" term="%22Wang+M%22">Wang M</searchLink>; Department of Neurology, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.<br /><searchLink fieldCode="AU" term="%22Lin+Y%22">Lin Y</searchLink>; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Peng+M%22">Peng M</searchLink>; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Zheng+F%22">Zheng F</searchLink>; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Shanghai Fujun Medical Laboratory Co Ltd, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22He+Q%22">He Q</searchLink>; Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China. hqzlul@163.com.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 May; Vol. 71 (5), pp. 283-291. <i>Date of Electronic Publication: </i>2025 Dec 10.
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      – TitleFull: Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
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              Text: 2026 May
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