Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

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Authors: Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere

Journal title: Clinical Genetics

Journal number: 2024 Mar 11

Journal publisher: Blackwell Publishing Inc.

Published year: 2024

DOI identifier: 10.1111/cge.14517

ISSN: 0009-9163