Variants in a small RNA gene cause a rare disorder
成果类型：
Editorial Material
署名作者：
Heyne, Henrike O.
署名单位：
University of Potsdam
刊物名称：
Nature
ISSN/ISSBN：
0028-4021
DOI：
10.1038/d41586-024-02434-1
发表日期：
2024-08-22
页码：
747-748
关键词：
摘要：
Genetic variants in RNU4-2, a gene in a part of the genome not usually in the spotlight, have been identified as the cause of a developmental disorder in a large number of individuals who previously lacked a diagnosis.
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