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Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

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Bibliographic Details
Title: Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Authors: Xie, Yaojun1,2 (AUTHOR), Li, Keyi3 (AUTHOR), Yang, Li4 (AUTHOR), Zeng, Xiaofei3 (AUTHOR), Chen, Zhehui5 (AUTHOR), Ma, Xue5 (AUTHOR), Zhang, Luyi3 (AUTHOR), Zhou, Yuwei3 (AUTHOR), Jin, Liqin6 (AUTHOR) liqinjin@126.com, Yang, Yanling5 (AUTHOR) organic.acid@126.com, Lou, Xiaoting1,3 (AUTHOR) xiaoting_lou@163.com
Source: Orphanet Journal of Rare Diseases. 12/24/2024, Vol. 19 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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Description
ISSN:17501172
DOI:10.1186/s13023-024-03469-3