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Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.

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Bibliographic Details
Title: Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
Authors: Zhang, Bijun1 (AUTHOR), Zhang, Dongyang1 (AUTHOR), Sun, Feiyue1 (AUTHOR), Si, Xinxin2 (AUTHOR), Luan, Meng3 (AUTHOR) luanm@sj-hospital.org, He, Rong1 (AUTHOR) her@sj-hospital.org
Source: Orphanet Journal of Rare Diseases. 3/12/2025, Vol. 20 Issue 1, p1-10. 10p.
Database: Academic Search Ultimate
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ISSN:17501172
DOI:10.1186/s13023-025-03640-4