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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Year of publication

2022

Authors

Micale Lucia, Morlino Silvia, Carbone Annalucia, Carissimo Annamaria, Nardella Grazia, Fusco Carmela, Palumbo Orazio, Schirizzi Annalisa, Russo Federica, Mazzoccoli Gianluigi, Breckpot Jeroen, De Luca Chiara, Ferraris Alessandro, Giunta Cecilia, Grammatico Paola, Haanpää Maria K, Mancano Giorgia, Forzano Giulia, Cacchiarelli Davide, Van Esch Hilde, Callewaert Bert, Rohrbach Marianne, Castori Marco
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Organizations and authors

University of Turku

Haanpää Maria

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

Genetics in Medicine

Publisher

Springer Nature

Volume

24

Issue

2

Pages

439-453

ISSN

1098-3600

​Publication forum

56522

​Publication forum level

2

Open access

Open access in the publisher’s service

No

Open access of publication channel

Partially open publication channel

Self-archived

No

Other information

Fields of science

Biomedicine

Publication country

Netherlands

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1016/j.gim.2021.10.009

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

Yes