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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. (2023)

First Author: Pavinato L

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.gim.2023.100922

PubMed Identifier: 37403762

Publication URI: http://europepmc.org/abstract/MED/37403762

Type: Journal Article/Review

Volume: 25

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 11

ISSN: 1098-3600