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Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

Year of publication

2020

Authors

PedNet Study Grp; Andersson, Nadine G.; Labarque, Veerle; Letelier, Anna; Mancuso, Maria Elisa; Buehrlen, Martina; Fischer, Kathelijn; Kartal-Kaess, Mutlu; Koskenvuo, Minna; Mikkelsen, Torben; Ljung, Rolf

Organizations and authors

Helsinki University Hospital Catchment Area

Koskenvuo Minna

University of Helsinki

Koskenvuo Minna

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

Human mutation

Parent publication name

Human mutation

Volume

41

Issue

12

Pages

2058-2072

ISSN

1059-7794

​Publication forum

57255

​Publication forum level

2

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

Self-archived

No

Other information

Fields of science

Genetics, developmental biology, physiology; Biomedicine

Keywords

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

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1002/humu.24117

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

Yes