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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: rapti m. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
Fragments: where are we now?
Osborne J, Panova S, Rapti M, Urushima T, Jhoti H. Osborne J, et al. Among authors: rapti m. Biochem Soc Trans. 2020 Feb 28;48(1):271-280. doi: 10.1042/BST20190694. Biochem Soc Trans. 2020. PMID: 31985743 Review.
[Targeted chemotherapy for breast cancer: patients perception of the use of tumor gene profiling approaches to better adapt treatments].
Pellegrini I, Rapti M, Extra JM, Petri-Cal A, Apostolidis T, Ferrero JM, Bachelot T, Viens P, Bertucci F, Julian-Reynier C. Pellegrini I, et al. Among authors: rapti m. Med Sci (Paris). 2012 Mar;28 Spec No 1:24-7. doi: 10.1051/medsci/2012281s107. Epub 2012 Apr 9. Med Sci (Paris). 2012. PMID: 22494653 Free article. Review. French.
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