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. 2022 Feb 3;23(3):1753. doi: 10.3390/ijms23031753

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© 2022 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(A) Schematic of the ODAD1 transcript (NM_001364171.2) showing the relative locations of the c.1502+5G>A variant (red arrow) and the primers used for RT-PCR (black arrows). (B) The major product produced by RT-PCR of UNC78 was shorter than that produced from UNC77 and an unrelated control, due to the skipping of exon 14. (C) ddPCR demonstrated the expression of a greatly reduced level of ODAD1 transcripts containing exon 14 in samples from UNC78. Symbols, datapoints from individual experiments; lines, the mean and std. dev.; ***, p < 0.001 by a two-tailed t-test. (n = 3 experiments).