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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. (2024)

First Author: Salpietro V

Attributed to: Pathological mechanisms underlying Progressive Myoclonus Epilepsy funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2023.11.012

PubMed Identifier: 38118446

Publication URI: http://europepmc.org/abstract/MED/38118446

Type: Journal Article/Review

Volume: 111

Parent Publication: American journal of human genetics

Issue: 1

ISSN: 0002-9297