A case of Joubert syndrome caused by novel compound heterozygous variants in the <i>TMEM67</i> gene.
Journal Information
Full Title: J Int Med Res
Abbreviation: J Int Med Res
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Related Papers from Same Journal
Transparency Score
3/6
50.0% Transparent
Transparency Indicators
Click on green indicators to view evidence textCore Indicators
Data Sharing
Code Sharing
COI Disclosure
Evidence found in paper:
"The authors declare no potential conflict of interest."
Funding Disclosure
Evidence found in paper:
"Funding: This research was funded by the Ministry of Science and Higher Education of the Russian Federation within the framework of state support for the creation and development of World-Class Research Centers “Digital Biodesign and Personalized Healthcare”, grant number 75-15-2022-305."
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