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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant Journal Articles Refereed

Overview

Authors

Authorship
- LAKE N
- DR Alison Compton
- PROF David Thorburn
- FORMOSA LE
- DR David Stroud
- RYAN MT
- CALVO SE
- MOOTHA VK
- MORAR B
- PROCOPIS PG
- PROF John Christodoulou

Has subject area

For 2008 4 Digit Code
- Clinical Sciences
- Genetics
For 2008 6 Digit Code
- Genomics
Seo 2008 6 Digit Code
- Expanding Knowledge in the Biological Sciences
- Inherited Diseases (incl. Gene Therapy)

Published in

Human Mutation

Time

Date/time value

2019

Identity

Digital Object Identifier (DOI)

10.1002/humu.23753

Additional Document Info

Parent Title

HUMAN MUTATION

Volume

40

Issue

7

Publisher

Wiley-Liss

External Links
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  - 10.1002/humu.23753
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