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Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Among authors: kuzelova k. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
Monitoring of nucleophosmin oligomerization in live cells.
Holoubek A, Herman P, Sýkora J, Brodská B, Humpolíčková J, Kráčmarová M, Gášková D, Hof M, Kuželová K. Holoubek A, et al. Among authors: kuzelova k. Methods Appl Fluoresc. 2018 Jun 29;6(3):035016. doi: 10.1088/2050-6120/aaccb9. Methods Appl Fluoresc. 2018. PMID: 29901450
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