📣 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.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency (2025)

First Author: Thomas H

Attributed to: Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2025.02.005

Publication URI: http://dx.doi.org/10.1016/j.ajhg.2025.02.005

Type: Journal Article/Review

Parent Publication: The American Journal of Human Genetics