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  1. TitleBiallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
    Author Weis Denisa
    Co-authors Lin Liangguang L.
    Wang Huilun H.
    Li Zexin Jason
    Kusikova Katarina
    Ciznar P.
    Wolf Hermann M.
    Leiss-Piller Alexander
    Wang Zhihong
    Wei Xiaoqiong
    Weis Serge
    Skalická Katarína
    Hrčková Gabriela
    Danisovic Lubos
    Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV
    Yang Tingxuan T.
    Feichtinger René G.
    Mayr Johannes A.
    Qi Ling
    Source document Journal of clinical Investigation. Vol. 134, no. 2 (2024), art. no. e170882
    CategoryADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted)
    Category of document (from 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Type of documentčlánok
    Year2024
    DOI 10.1172/JCI170882
    File nameAccessSizeDownloadedTypeLicense
    Biallelic Cys141Tyr variant of SEL1L is associated with.pdfavailable11.1 MB4Publisher's version
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