Article

<i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

2023-08-21

Abstract excerpt

<h4>ABSTRACT</h4> Spliceosome and ciliary dysfunctions can lead to remarkably similar clinical syndromes. Studying ten individuals with retinal dystrophy, neurological involvement, and skeletal abnormalities, suggestive of both spliceosomopathies and ciliopathies, we involved GPATCH11, a lesser-known GPATCH-domain-containing regulators of RNA metabolism. To elucidate GPATCH11 function, we employed fibroblasts from...

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Literature Corpus work: 5678dde0-a259-5e5b-8e89-70e905c97673
DOI: 10.1101/2023.08.19.23293832

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