Article

The Role of a Novel TRIP12 Mutation in Intellectual Disability: A Molecular and Clinical Investigation one big Azeri family from Iran

2024-12-02

Abstract excerpt

<title>Abstract</title> <p>Thyroid Hormone Receptor Interactor 12 (<italic>TRIP12</italic>; MIM #617752) is an autosomal dominant hereditary disorder involved in the ubiquitin fusion degradation pathway and the regulation of DNA damage-induced chromatin ubiquitination. Positioned on chromosome 2 at position 2q36.3, <italic>TRIP12</italic> is a member of the E3 ubiquitin ligase family. This gene plays a vital role...

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Literature Corpus work: a98cffd6-4cbf-5dff-bd0e-60c1baf6fa39
DOI: 10.21203/rs.3.rs-5455293/v1

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