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A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes

Year of publication

2022

Authors

Lähteenoja, Laura; Häkli, Sanna; Tuupanen, Sari; Kuismin, Outi; Palosaari, Tapani; Rahikkala, Elisa; Falck, Aura

Organizations and authors

University of Oulu

Falck Aura

Rahikkala Elisa Orcid -palvelun logo

Lähteenoja Laura

Kuismin Outi

Häkli Sanna Marjatta

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Review article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A2 Review article, Literature review, Systematic review

Publication channel information

Journal

Ophthalmic genetics

Publisher

Taylor & Francis

Issue

2

Pages

152-158

ISSN

1381-6810

​Publication forum

64437

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY NC ND

Self-archived

Yes

License of the self-archived publication

CC BY NC ND

Other information

Fields of science

Biomedicine; General medicine, internal medicine and other clinical medicine

Keywords

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

Publication country

United Kingdom

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

Yes

DOI

10.1080/13816810.2022.2045511

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

Yes