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List of patients with several pathogenic mutations in the studied genes.

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Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_List_of_patients_with_several_pathogenic_mutations_in_the_studied_genes_/1059987
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aThese mutationsare considered pathogenic because they could produce alterations in the splicing process, according to in silico analysis.
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2015-12-02
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