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1 Ergebnisse
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A missense variant in the nuclear localization signal of DK..:
Chia-Mei Chu
;
Hsin-Hui Yu
;
Tsai-Ling Kao
...
https://doi.org/10.1038/s41525-022-00335-8. , 2022
Link:
https://doi.org/10.1038/s41525-022-00335-8
RT Journal T1
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:9aecb9637b0d4a5bbbfe6204b5fa8c01&Exemplar=1&LAN=DE A1 Chia-Mei Chu A1 Hsin-Hui Yu A1 Tsai-Ling Kao A1 Yi-Hsuan Chen A1 Hsuan-Hsuan Lu A1 En-Ting Wu A1 Yun-Li Yang A1 Chin-Hsien Lin A1 Shin-Yu Lin A1 Meng-Ju Melody Tsai A1 Yin-Hsiu Chien A1 Wuh-Liang Hwu A1 Wen-Pin Chen A1 Ni-Chung Lee A1 Chi-Kang Tseng PB Nature Portfolio YR 2022 K1 Medicine K1 R K1 Genetics K1 QH426-470 JF https://doi.org/10.1038/s41525-022-00335-8 LK http://dx.doi.org/https://doi.org/10.1038/s41525-022-00335-8 DO https://doi.org/10.1038/s41525-022-00335-8 SF ELIB - SuUB Bremen
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