Functional analyses of splice site variants in TCF12

Abstract Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can lead to dysfunctional proteins and thus, to a variety of different human diseases. Mis-splicing can be caused by genetic variants influencing many different molecular processes,...

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Bibliographic Details
Main Authors: Angela Borst, Tilmann Schweitzer, Denise Horn, Erdmute Kunstmann, Eva-Maria König, Natalie Pluta, Eva Klopocki
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Human Genomics
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Online Access:https://doi.org/10.1186/s40246-025-00758-1
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