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A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. (2022)

First Author: Gangfuß A

Attributed to: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/ajmg.a.62494

PubMed Identifier: 34519148

Publication URI: http://europepmc.org/abstract/MED/34519148

Type: Journal Article/Review

Volume: 188

Parent Publication: American journal of medical genetics. Part A

Issue: 1

ISSN: 1552-4825