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A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum File File

van den Heuvel, Anita , Wondergem, Annelotte P. , Kim, Mihyun , Breet, Isa , Kim, Hyun-suk , Fawcett, Heather D. , Fassihi, Hiva , Lehmann, Alan Robert , Schärer, Orlando D. , Luijsterburg, Martijn S.

Article Issue Date2025-09 View12
Enhanced splicing correction effect by an oligo-aspartic acid-PNA conjugate and cationic carrier complexes File

Bae, Yun Mi , Kim, Myung Hee , Yu, Gwang Sig , Um, Bong Ho , Park, Hee Kyung , Lee, Hyun-il , Lee, Kang Taek , Suh, Yung Doug , Choi, Joon Sig

Article Issue Date2014-02 View96
Recent advances in MDS mutation landscape: Splicing and signalling File

Follo, Matilde Y. , Pellagatti, Andrea , Ratti, Stefano , Ramazzotti, Giulia , Faenza, Irene , Fiume, Roberta , Mongiorgi, Sara , Suh, Pann-Ghill , McCubrey, James A. , Manzoli, Lucia , et al

Article Issue Date2020-01 View71
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