Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.

Publication Year: 2022

DOI:
10.1002/humu.24432

PMCID:
PMC9542062

PMID:
35801529

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

Transparency Score
4/6
66.7% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Evidence found in paper:

"open access publishing facilitated by the university of melbourne as part of the wiley - the university of melbourne agreement via the council of australian university librarians6 1 data availability statement described variants are submitted to clinvar ( https://www ncbi nlm nih gov/clinvar/ sub11348440)."

Code Sharing
Evidence found in paper:

"CONFLICT OF INTEREST The authors declare no conflict of interest."

Evidence found in paper:

"This study was supported by a CHU Rennes grant (Appel à Projets Innovations 2019 to SJ), an Australian National Health and Medical Research Council (NHMRC) program grant (1074258 to AHS), NHMRC fellowships (1054432 to EJT, 1062854 to AHS), a Suzi Carp postdoctoral scholarship (to EJT) and the Deutsche Forschungsgemeinschaft (DO 545/18‐1). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian government's operational infrastructure support program. We thank the Bioinformatic department of Rennes University Hospital (Pr M. De Tayrac and Dr W. Carré) for technical assistance. Open access publishing facilitated by The University of Melbourne, as part of the Wiley ‐ The University of Melbourne agreement via the Council of Australian University Librarians."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025