Correspondence on “Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome” by Valenzuela et al

IF 6.2 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2026-04-01 Epub Date: 2026-01-19 DOI:10.1016/j.gim.2026.101686

Zarnab Saleem , Jawairya Muhammad Hussain , Qurat-ul-Ain Siddiqui , Sarah Zuberi

引用次数: 0

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Valenzuela等人对“11例RNU4-2致病性变异个体的深度表型分析揭示了一种临床可识别的综合征”的对应。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.