📣 Help Shape the Future of UKRI's Gateway to Research (GtR)

We're improving UKRI's Gateway to Research and are seeking your input! If you would be interested in being interviewed about the improvements we're making and to have your say about how we can make GtR more user-friendly, impactful, and effective for the Research and Innovation community, please email gateway@ukri.org.

Novel bi-allelic TRMT1 variants perturb tRNA modifications expanding the clinical spectrum of intellectual disability (2024)

First Author: Efthymiou Stephanie

Attributed to: Leveraging the power of genomics and transcriptomics to revolutionise the diagnosis and understanding of neurological disorders funded by MRC

Abstract

No abstract provided

Bibliographic Information

Type: Conference/Paper/Proceeding/Abstract

Volume: 32

Parent Publication: EUROPEAN JOURNAL OF HUMAN GENETICS

ISSN: 1018-4813