Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
Journal Information
Full Title: BMC Med Genomics
Abbreviation: BMC Med Genomics
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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"the identified variant in this research is accessible on the clinvar repository under accession number "sub14147953" for the maged2 gene mutation."
"Declarations Ethics approval and consent to participateThe study was approved by the Ethical Committee of Renmin Hospital, Hubei University of Medicine. Informed consent was provided by all patients or by the parents of the patients. The patients were informed of the diagnostic tests and genetic analysis before operations in accordance with the Declaration of Helsinki. Written informed consents to participate were obtained from participants. All methods were carried out in accordance with relevant guidelines and regulations. This study was carried out in compliance with the ARRIVE guidelines. Consent for publicationNA. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."
"Funding The present study was funded by the Talent Research Starting Foundation (2016QDJZR09), Hubei University of Medicine (2016)."
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Last Updated: Aug 05, 2025