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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3

Year of publication

2024

Authors

Rahikkala, Elisa; Komulainen-Ebrahim, Jonna; Tolonen, Jussi-Pekka; Vorimo, Sandra; Suo-Palosaari, Maria; Vieira, Päivi; Piispala, Johanna; Uusimaa, Johanna; Pylkäs, Katri; Mantere, Tuomo

Organizations and authors

University of Turku

Rahikkala Elisa

University of Oulu

Rahikkala Elisa Orcid -palvelun logo

Uusimaa Johanna

Komulainen-Ebrahim Jonna

Tolonen Jussi-Pekka Orcid -palvelun logo

Pylkäs Katri Orcid -palvelun logo

Suo-Palosaari Maria Helena

Vorimo Sandra

Mantere Tuomo

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

Issue

9

Article number

e70014

​Publication forum

82670

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Fully open publication channel

License of the publisher’s version

CC BY NC

Self-archived

Yes

License of the self-archived publication

CC BY NC

Other information

Fields of science

Biomedicine

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

Yes

DOI

10.1002/mgg3.70014

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

Yes