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A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

Defective glycosylphosphatidylinositol (GPI)‐anchor biogenesis can cause a spectrum of predominantly neurological problems. For eight genes critical to this biological process, disease associations are not yet reported. Scanning exomes from 7,833 parent–child trios and 1,792 singletons from the DDD...

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書目詳細資料
發表在:Hum Mutat
Main Authors: Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6001798/
https://ncbi.nlm.nih.gov/pubmed/29573052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23420
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