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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. (2022)

First Author: Klöckner C

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/10.1093/brain/awac074

PubMed Identifier: 35202461

Publication URI: http://europepmc.org/abstract/MED/35202461

Type: Journal Article/Review

Volume: 145

Parent Publication: Brain : a journal of neurology

Issue: 6

ISSN: 0006-8950