Events The 2nd International Electronic Conference on Genes

Event submissions

Published

This submission belongs to the session C. Human Genomics and Genetic Diseases of the event The 2nd International Electronic Conference on Genes

Published date

09 Dec, 2024

Academic Editor

Christos Kontos

Citation

Maria Abu Elasal, Asodu Sandeep Sarma, Samer Khateb, Daan M Panneman, Frans PM Cremers, Eyal Banin, Dror Sharon, A leaky deep intronic splice variant in CLRN1 is associated <br />with non-syndromic retinitis pigmentosa, in Proceedings of The 2nd International Electronic Conference on Genes, 11 December–13 December 2024, MDPI: Basel, Switzerland

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A leaky deep intronic splice variant in CLRN1 is associated with non-syndromic retinitis pigmentosa

Asodu Sandeep Sarma ¹

Maria Abu Elasal ¹

Samer Khateb ¹

Daan M Panneman ²

Frans PM Cremers ²

Eyal Banin ¹

Dror Sharon ¹

1. Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, 91120 Jerusalem, Israel

2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

Abstract

Keywords

CLRN1

deep intronic

inherited retinal diseases

pseudo-exon

retinitis pigmentosa

27 splicing