De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. (2020)
Attributed to:
Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2020.06.016
PubMed Identifier: 32738225
Publication URI: http://europepmc.org/abstract/MED/32738225
Type: Journal Article/Review
Volume: 107
Parent Publication: American journal of human genetics
Issue: 2
ISSN: 0002-9297