Search Results - "Miao, Hefan"

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    Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis by Miao, Hefan, Zhou, Jiapeng, Yang, Qi, Liang, Fan, Wang, Depeng, Ma, Na, Gao, Bodi, Du, Juan, Lin, Ge, Wang, Kai, Zhang, Qianjun

    Published in Hereditas (2018)
    “…For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one heterozygous pathogenic variant can be found from clinical…”
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    Journal Article
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