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    Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

    Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1 by Lisha Yang, Jiewen Fu, Jingliang Cheng, Baixu Zhou, Maomei Chen, Songyot Anuchapreeda, Junjiang Fu

    Published 2023
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