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. 2024 Mar 14;2:101838. doi: 10.1016/j.gimo.2024.101838

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© 2024 The Authors

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

PMC Copyright notice

Effects of NSD2 variants in Case 2. A. Schematic description of NSD2 transcript from both alleles of case 2. B. NSD2 antibody (ab75359) was specific to proteins derived from the Nsd2 protein via immunoblotting because there was no band in Nsd2^−/− brain. The decreased levels of NSD2 proteins (approx. 150 kDa of O96028-1 and 75 KDa of O96028-3) were confirmed in the case 2 iPSCs. In contrast, a case 2-specific protein was detected by ab75359 (approx. 55 kDa), which was close to the 53.18 kDa speculated molecular weight of NSD2 p.(Glu470AspfsTer12) by Expasy (https://www.expasy.org/). C. The modification levels of H3K36me2 were decreased in case 2 iPSCs.