From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.

Journal Information

Full Title: BMC Pediatr

Abbreviation: BMC Pediatr

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Pediatrics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Declarations Ethics approval and consent to participateThis case report, obtained informed consent from the legal guardians of both participants. Ethical approval of the study was obtained from the Iran University of Medical Sciences (IUMS) Ethics Committee. Consent for publicationLegal guardians of the patient provided written informed consent for the publication of this case report and the material it includes. A copy of the consent form is available for review by the Editor of this journal. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding This study was conducted without any funding or involvement from external sources."

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