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CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

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Bibliographic Details
Title: CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Authors: Singla, Amika1 (AUTHOR), Rogers, Carolyn2 (AUTHOR), Touma, Mary-Joe1 (AUTHOR), El-Najjar, Yassin1 (AUTHOR), Colley, Alison2 (AUTHOR), Boesch, Daniel J.3 (AUTHOR), Billadeau, Daniel D.4 (AUTHOR), Gecz, Jozef5 (AUTHOR), Chen, Baoyu3 (AUTHOR), Burstein, Ezra1,6 (AUTHOR) ezra.burstein@utsouthwestern.edu
Source: BMC Medical Genomics. 5/30/2025, Vol. 18 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
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Description
ISSN:17558794
DOI:10.1186/s12920-025-02168-7