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

First Author: Efthymiou Stephanie

Attributed to: MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases 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