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Towards the integration of RNA-seq into diagnostic pipelines for the identification of pathogenic splicing variants in Mendelian disorders (2020)

First Author: Rowlands C. F.

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

Type: Conference/Paper/Proceeding/Abstract

Volume: 28

Parent Publication: EUROPEAN JOURNAL OF HUMAN GENETICS

Issue: SUPPL 1

ISSN: 1018-4813