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Pathogenic REST variant causing Jones syndrome and a review of the literature

Year of publication

2023

Authors

Rahikkala E; Julku J; Koskinen S; Keski-Filppula T; Weissgraeber S; Bertoli-Avella AM; Häkli S; Kraatari-Tiri M

Organizations and authors

Oulu University Hospital Catchment Area

Rahikkala Elisa

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

European Journal of Human Genetics

Volume

31

Issue

4

Pages

469-473

ISSN

1018-4813

​Publication forum

55732

​Publication forum level

2

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Biomedicine

International co-publication

No

Co-publication with a company

No

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes