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  1. 259741

    A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review by ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei

    Published 2024-10-01
    “…The whole-exome sequencing identified a heterozygous mutation in the IFIH1 gene (c.2159G > A, p.R720Q)- a known pathogenic mutation. …”
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    Article
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