Article

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated With Non-syndromic Retinitis Pigmentosa

2024-09-09

Abstract excerpt

Inherited retinal diseases (IRDs) are clinically complex and genetically heterogeneous visual impairment disorders with varying penetrance and severity. Disease-causing variants in at least 289 nuclear and mitochondrial genes have been implicated in their pathogenesis. In the current study, we performed exome sequencing on a 51 years-old Ashkenazi Jewish patient with non-syndromic retinitis pigmentosa (RP) and ide...

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Literature Corpus work: 69aaff6b-2455-53b2-8eac-192f6951c481
DOI: 10.20944/preprints202409.0569.v1

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