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

Publication Year: 2020

DOI:
10.1002/humu.24117

PMCID:
PMC7756260

PMID:
32935414

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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3/6
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Evidence found in paper:

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

Evidence found in paper:

"This study is supported by the PedNet Haemophilia Research Foundation and by grants from The Swedish Research Council (2015‐02957). Unrestricted sponsorship for the PedNet Haemophilia Foundation is currently received from Bayer AG, Novo Nordisk Healthcare AG, Pfizer SRL, CSL Behring GmbH, Swedish Orphan Biovitrium AB, Takeda, Hoffmann La‐Roche."

Evidence found in paper:

"Data were retrieved from the “PedNet Registry,” a database which is owned and administered by the “PedNet Haemophilia Research Foundation,” consisting of 31 international hemophilia treatment centers in 18 countries and registered at ClinicalTrials.gov at NCT02979119. A complete list of PedNet members is added in the Appendix. Approval for data collection was obtained from each center's ethical review board, and written informed consent was obtained from the parents or guardians of all participants, in accordance with the Declaration of Helsinki."

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Last Updated: Aug 05, 2025