Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.

Authors:
Yan X; Hu Y; Zhang X; Gao X; Zhao Y and 3 more

Journal:
BMC Med Genomics

Publication Year: 2024

DOI:
10.1186/s12920-024-01797-8

PMCID:
PMC10795325

PMID:
38238844

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

Transparency Score
4/6
66.7% Transparent
Transparency Indicators
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Core Indicators
Evidence found in paper:

"the identified variant in this research is accessible on the clinvar repository under accession number "sub14147953" for the maged2 gene mutation."

Code Sharing
Evidence found in paper:

"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."

Evidence found in paper:

"Funding The present study was funded by the Talent Research Starting Foundation (2016QDJZR09), Hubei University of Medicine (2016)."

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