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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. (2021)

First Author: Fry AE

Attributed to: The Wales Genomic Medicine Centre funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2020.10.017

PubMed Identifier: 33245860

Publication URI: http://europepmc.org/abstract/MED/33245860

Type: Journal Article/Review

Volume: 108

Parent Publication: American journal of human genetics

Issue: 1

ISSN: 0002-9297