Article

A novel <i>RLIM/RNF12</i> variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

2020-12-10

Abstract excerpt

<h4>ABSTRACT</h4> Tonne-Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS is caused exclusively by variants in the gene encoding the E3 ubiquitin ligase gene RLIM , also known as. Here we report identification of a novel RLIM missense variant, c.1262A>G p.(Tyr...

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Literature Corpus work: e19037f8-97a3-5314-832c-facf616266e3
DOI: 10.1101/2020.12.09.417873

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