Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Journal Information

Full Title: Neurogenetics

Abbreviation: Neurogenetics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
2/6
0.0% Transparent
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Evidence found in paper:

"Declarations Ethics approvalThese procedures were performed with informed consent according to protocols approved by the Sydney Local Health District, Human Ethics Committee, Concord Hospital, Australia (HREC/17/CRGH/8). Consent to participateNot applicable. Consent for publicationNot applicable. Conflict of interestThe authors declare no competing interests. Conflict of interest The authors declare no competing interests."

Evidence found in paper:

"Funding This research is supported by an Australian Government Research Training Program (RTP) Scholarship."

Protocol Registration
Open Access
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025