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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. (2022)

First Author: Best S

Attributed to: Elucidating splicing factor function and retinal splicing programmes: developing new therapeutic strategies for splicing factor retinitis pigmentosa funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1136/jmedgenet-2021-108065

PubMed Identifier: 34716235

Publication URI: http://europepmc.org/abstract/MED/34716235

Type: Journal Article/Review

Volume: 59

Parent Publication: Journal of medical genetics

Issue: 8

ISSN: 0022-2593