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Article

Functional analyses of splice site variants in TCF12.

Human genomics - 26 Apr 2025

Borst Angela, Schweitzer Tilmann, Horn Denise, Kunstmann Erdmute, König Eva-Maria, Pluta Natalie, Klopocki Eva

Abstract excerpt

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, e.g. splice donor and splice acceptor site variants. Today, the consequences of these variants can be calculated via...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40287710
DOI: 10.1186/s40246-025-00758-1
PMCID: PMC12034182

Genes

TCF12

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