De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. (2023)

First Author: Reijnders MRF
Attributed to:  Characterising and targeting Cyclin D stabilisation in development and disease. funded by FLF

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2023.100838

PubMed Identifier: 37057673

Publication URI: http://europepmc.org/abstract/MED/37057673

Type: Journal Article/Review

Volume: 25

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

Issue: 7

ISSN: 1098-3600