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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)

First Author: Manole A

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