Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
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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"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)."
"CONFLICT OF INTEREST The authors declare no conflict of interest."
"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."
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Last Updated: Aug 05, 2025