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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease. (2022)

First Author: Rowlands CF

Attributed to: Use of integrated genomic and functional genomic approaches to the diagnosis of rare inherited disease linked to nonsense mutations funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2021.12.014

PubMed Identifier: 35065709

Publication URI: http://europepmc.org/abstract/MED/35065709

Type: Journal Article/Review

Volume: 109

Parent Publication: American journal of human genetics

Issue: 2

ISSN: 0002-9297