First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Journal Information
Full Title: Genes (Basel)
Abbreviation: Genes (Basel)
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
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Transparency Score
4/6
66.7% Transparent
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Data Sharing
Evidence found in paper:
"it has been reported in clinvar (rcv001589365) [ ] but there is no well-described information and the variant was not segregated in the proband's family."
Code Sharing
COI Disclosure
Evidence found in paper:
"Conflicts of Interest Authors Roberta Russo, Immacolata Andolfo and Achille Iolascon were employed by the company CEINGE Biotecnologie Avanzate. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest."
Funding Disclosure
Evidence found in paper:
"This research received no external funding."
Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info
Tool: rtransparent
OST Version: N/A
Last Updated: Aug 05, 2025