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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. (2021)

First Author: Yap ZY

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

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2021.11.003

PubMed Identifier: 34800363

Publication URI: http://europepmc.org/abstract/MED/34800363

Type: Journal Article/Review

Volume: 108

Parent Publication: American journal of human genetics

Issue: 12

ISSN: 0002-9297