Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. (2021)

First Author: Richard EM
Attributed to:  Targeting the cellular metabolism to treat tissue-specific mitochondrial diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2021.08.003

PubMed Identifier: 34626583

Publication URI: http://europepmc.org/abstract/MED/34626583

Type: Journal Article/Review

Volume: 108

Parent Publication: American journal of human genetics

Issue: 10

ISSN: 0002-9297